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dbVar

Database of genomic structural variation

nsv2781926

Organism: Homo sapiens

Study:nstd133 (Redin et al. 2016)
Variant Type:complex chromosomal rearrangement
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:4
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Publication(s):Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 155 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):70,145,809-70,145,809

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781926	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	70,145,809	70,145,809	-
nsv2781926	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	70,146,014	70,146,014	-
nsv2781926	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	82,795,289	82,795,289	-
nsv2781926	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	82,795,462	82,795,462	+
nsv2781926	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	56,886,728	56,886,728	+
nsv2781926	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	56,886,728	56,886,728	+
nsv2781926	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	56,956,308	56,956,308	+
nsv2781926	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	56,956,308	56,956,308	-
nsv2781926	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	70,611,492	70,611,492	-
nsv2781926	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	70,611,697	70,611,697	-
nsv2781926	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	83,260,972	83,260,972	-
nsv2781926	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	83,261,145	83,261,145	+
nsv2781926	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	57,178,926	57,178,926	+
nsv2781926	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	57,178,926	57,178,926	+
nsv2781926	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	57,248,506	57,248,506	+
nsv2781926	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	57,248,506	57,248,506	-

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660340	interchromosomal translocation	ROC23	Sequencing	Split read and paired-end mapping	SCV000320922	nssv13660338, nssv13660339, nssv13660341
nssv13660339	intrachromosomal translocation	ROC23	Sequencing	Split read and paired-end mapping	SCV000320922	nssv13660338, nssv13660340, nssv13660341
nssv13660338	interchromosomal translocation	ROC23	Sequencing	Split read and paired-end mapping	SCV000320922	nssv13660339, nssv13660340, nssv13660341
nssv13660341	copy number loss	ROC23	Sequencing	Split read and paired-end mapping	SCV000320922	nssv13660338, nssv13660339, nssv13660340

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv13660340	Remapped	Perfect		GRCh38.p12	First Pass	NC_000001.11	Chr1	70,145,809	70,145,809	-
nssv13660339	Remapped	Perfect		GRCh38.p12	First Pass	NC_000001.11	Chr1	70,146,014	70,146,014	-
nssv13660338	Remapped	Perfect		GRCh38.p12	First Pass	NC_000001.11	Chr1	82,795,289	82,795,289	-
nssv13660339	Remapped	Perfect		GRCh38.p12	First Pass	NC_000001.11	Chr1	82,795,462	82,795,462	+
nssv13660340	Remapped	Perfect		GRCh38.p12	First Pass	NC_000015.10	Chr15	56,886,728	56,886,728	+
nssv13660341	Remapped	Perfect	NC_000015.10:g.568 86728delNC_000015. 10:g.56956308del	GRCh38.p12	First Pass	NC_000015.10	Chr15	56,886,728	56,886,728
nssv13660338	Remapped	Perfect		GRCh38.p12	First Pass	NC_000015.10	Chr15	56,956,308	56,956,308	-
nssv13660341	Remapped	Perfect	NC_000015.10:g.568 86728delNC_000015. 10:g.56956308del	GRCh38.p12	First Pass	NC_000015.10	Chr15	56,956,308	56,956,308
nssv13660340	Submitted genomic			GRCh37 (hg19)		NC_000001.10	Chr1	70,611,492	70,611,492	-
nssv13660339	Submitted genomic			GRCh37 (hg19)		NC_000001.10	Chr1	70,611,697	70,611,697	-
nssv13660338	Submitted genomic			GRCh37 (hg19)		NC_000001.10	Chr1	83,260,972	83,260,972	-
nssv13660339	Submitted genomic			GRCh37 (hg19)		NC_000001.10	Chr1	83,261,145	83,261,145	+
nssv13660340	Submitted genomic			GRCh37 (hg19)		NC_000015.9	Chr15	57,178,926	57,178,926	+
nssv13660341	Submitted genomic		[NC_000015.9:g.571 78926del];[NC_0000 15.9:g.57248506del ]	GRCh37 (hg19)		NC_000015.9	Chr15	57,178,926	57,178,926
nssv13660338	Submitted genomic			GRCh37 (hg19)		NC_000015.9	Chr15	57,248,506	57,248,506	-
nssv13660341	Submitted genomic		[NC_000015.9:g.571 78926del];[NC_0000 15.9:g.57248506del ]	GRCh37 (hg19)		NC_000015.9	Chr15	57,248,506	57,248,506

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Clinical Interpretation	ClinVar ID	Gender	Other Calls in this Sample and Study
nssv13660340	ROC23		interchromosomal translocation		SCV000320922	Male	nssv13660338, nssv13660339, nssv13660341
nssv13660339	ROC23		intrachromosomal translocation		SCV000320922	Male	nssv13660338, nssv13660340, nssv13660341
nssv13660338	ROC23		interchromosomal translocation		SCV000320922	Male	nssv13660339, nssv13660340, nssv13660341
nssv13660341	ROC23	GRCh37: [NC_000015.9:g.57178926del];[NC_000015.9:g.57248506del]	copy number loss		SCV000320922	Male	nssv13660338, nssv13660339, nssv13660340

No genotype data were submitted for this variant

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