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dbVar

Database of genomic structural variation

nsv2781949

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: 126 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):92,627,436-92,627,436

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781949	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	92,627,436	92,627,436	+
nsv2781949	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	92,628,337	92,628,337	+
nsv2781949	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	92,363,328	92,363,328	+
nsv2781949	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	92,363,430	92,363,430	+
nsv2781949	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	91,963,143	91,963,143	+
nsv2781949	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	91,964,044	91,964,044	+
nsv2781949	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	93,375,556	93,375,556	+
nsv2781949	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	93,375,658	93,375,658	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660410	interchromosomal translocation	ROC54	Sequencing	Split read and paired-end mapping	SCV000320945	nssv13660411
nssv13660411	interchromosomal translocation	ROC54	Sequencing	Split read and paired-end mapping	SCV000320945	nssv13660410

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv13660410	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	92,627,436	92,627,436	+
nssv13660411	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	92,628,337	92,628,337	+
nssv13660411	Remapped	Perfect	GRCh38.p12	First Pass	NC_000008.11	Chr8	92,363,328	92,363,328	+
nssv13660410	Remapped	Perfect	GRCh38.p12	First Pass	NC_000008.11	Chr8	92,363,430	92,363,430	+
nssv13660410	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	91,963,143	91,963,143	+
nssv13660411	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	91,964,044	91,964,044	+
nssv13660411	Submitted genomic		GRCh37 (hg19)		NC_000008.10	Chr8	93,375,556	93,375,556	+
nssv13660410	Submitted genomic		GRCh37 (hg19)		NC_000008.10	Chr8	93,375,658	93,375,658	+

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
nssv13660410	ROC54	interchromosomal translocation		SCV000320945	Male	nssv13660411
nssv13660411	ROC54	interchromosomal translocation		SCV000320945	Male	nssv13660410

No genotype data were submitted for this variant

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