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dbVar

Database of genomic structural variation

nsv2781837

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: 133 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):16,030,475-16,030,475

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781837	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	16,030,475	16,030,475	+
nsv2781837	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	16,030,478	16,030,478	+
nsv2781837	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	10,765,436	10,765,436	-
nsv2781837	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	10,765,438	10,765,438	+
nsv2781837	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	70,769,700	70,769,700	+
nsv2781837	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	70,769,701	70,769,701	+
nsv2781837	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	71,044,361	71,044,361	+
nsv2781837	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	71,044,362	71,044,362	-
nsv2781837	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	16,030,706	16,030,706	+
nsv2781837	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	16,030,709	16,030,709	+
nsv2781837	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	10,805,063	10,805,063	-
nsv2781837	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	10,805,065	10,805,065	+
nsv2781837	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	68,765,841	68,765,841	+
nsv2781837	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	68,765,842	68,765,842	+
nsv2781837	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	69,040,502	69,040,502	+
nsv2781837	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	69,040,503	69,040,503	-

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660164	interchromosomal translocation	DGAP254	Sequencing	Split read and paired-end mapping	SCV000320857	nssv13660162, nssv13660163, nssv13660165
nssv13660163	interchromosomal translocation	DGAP254	Sequencing	Split read and paired-end mapping	SCV000320857	nssv13660162, nssv13660164, nssv13660165
nssv13660165	interchromosomal translocation	DGAP254	Sequencing	Split read and paired-end mapping	SCV000320857	nssv13660162, nssv13660163, nssv13660164
nssv13660162	intrachromosomal translocation	DGAP254	Sequencing	Split read and paired-end mapping	SCV000320857	nssv13660163, nssv13660164, nssv13660165

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv13660164	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	16,030,475	16,030,475	+
nssv13660163	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	16,030,478	16,030,478	+
nssv13660165	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	10,765,436	10,765,436	-
nssv13660164	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	10,765,438	10,765,438	+
nssv13660165	Remapped	Perfect	GRCh38.p12	First Pass	NC_000017.11	Chr17	70,769,700	70,769,700	+
nssv13660162	Remapped	Perfect	GRCh38.p12	First Pass	NC_000017.11	Chr17	70,769,701	70,769,701	+
nssv13660163	Remapped	Perfect	GRCh38.p12	First Pass	NC_000017.11	Chr17	71,044,361	71,044,361	+
nssv13660162	Remapped	Perfect	GRCh38.p12	First Pass	NC_000017.11	Chr17	71,044,362	71,044,362	-
nssv13660164	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	16,030,706	16,030,706	+
nssv13660163	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	16,030,709	16,030,709	+
nssv13660165	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	10,805,063	10,805,063	-
nssv13660164	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	10,805,065	10,805,065	+
nssv13660165	Submitted genomic		GRCh37 (hg19)		NC_000017.10	Chr17	68,765,841	68,765,841	+
nssv13660162	Submitted genomic		GRCh37 (hg19)		NC_000017.10	Chr17	68,765,842	68,765,842	+
nssv13660163	Submitted genomic		GRCh37 (hg19)		NC_000017.10	Chr17	69,040,502	69,040,502	+
nssv13660162	Submitted genomic		GRCh37 (hg19)		NC_000017.10	Chr17	69,040,503	69,040,503	-

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
nssv13660164	DGAP254	interchromosomal translocation		SCV000320857	Female	nssv13660162, nssv13660163, nssv13660165
nssv13660163	DGAP254	interchromosomal translocation		SCV000320857	Female	nssv13660162, nssv13660164, nssv13660165
nssv13660165	DGAP254	interchromosomal translocation		SCV000320857	Female	nssv13660162, nssv13660163, nssv13660164
nssv13660162	DGAP254	intrachromosomal translocation		SCV000320857	Female	nssv13660163, nssv13660164, nssv13660165

No genotype data were submitted for this variant

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