Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv2781944

Organism: Homo sapiens

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

Variant Calls:2
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: 96 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):161,594,704-161,594,704

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781944	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	161,594,704	161,594,704	+
nsv2781944	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	161,594,710	161,594,710	+
nsv2781944	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	57,797,355	57,797,355	+
nsv2781944	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	57,797,381	57,797,381	+
nsv2781944	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	161,021,710	161,021,710	+
nsv2781944	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	161,021,716	161,021,716	+
nsv2781944	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	55,464,587	55,464,587	+
nsv2781944	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	55,464,613	55,464,613	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660400	interchromosomal translocation	ROC42	Sequencing	Split read and paired-end mapping	SCV000320940	nssv13660399
nssv13660399	interchromosomal translocation	ROC42	Sequencing	Split read and paired-end mapping	SCV000320940	nssv13660400

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv13660400	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	161,594,704	161,594,704	+
nssv13660399	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	161,594,710	161,594,710	+
nssv13660400	Remapped	Perfect	GRCh38.p12	First Pass	NC_000018.10	Chr18	57,797,355	57,797,355	+
nssv13660399	Remapped	Perfect	GRCh38.p12	First Pass	NC_000018.10	Chr18	57,797,381	57,797,381	+
nssv13660400	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	161,021,710	161,021,710	+
nssv13660399	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	161,021,716	161,021,716	+
nssv13660400	Submitted genomic		GRCh37 (hg19)		NC_000018.9	Chr18	55,464,587	55,464,587	+
nssv13660399	Submitted genomic		GRCh37 (hg19)		NC_000018.9	Chr18	55,464,613	55,464,613	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	Type	Clinical Interpretation	ClinVar ID	Gender	Other Calls in this Sample and Study
nssv13660400	ROC42	interchromosomal translocation		SCV000320940	Male	nssv13660399
nssv13660399	ROC42	interchromosomal translocation		SCV000320940	Male	nssv13660400

No genotype data were submitted for this variant

You are here: NCBI