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dbVar

Database of genomic structural variation

nsv2781819

Organism: Homo sapiens

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

Variant Calls:3
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: 137 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):22,580,380-22,580,380

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781819	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	22,580,380	22,580,380	+
nsv2781819	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	22,580,380	22,580,380	-
nsv2781819	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	31,095,459	31,095,459	+
nsv2781819	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	31,095,460	31,095,460	+
nsv2781819	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	33,542,762	33,542,762	+
nsv2781819	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	33,542,762	33,542,762	-
nsv2781819	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	22,582,003	22,582,003	+
nsv2781819	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	22,582,003	22,582,003	-
nsv2781819	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	31,564,665	31,564,665	+
nsv2781819	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	31,564,666	31,564,666	+
nsv2781819	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	34,011,968	34,011,968	+
nsv2781819	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	34,011,968	34,011,968	-

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660098	interchromosomal translocation	DGAP225	Sequencing	Split read and paired-end mapping	SCV000320839	nssv13660099, nssv13660097
nssv13660099	interchromosomal translocation	DGAP225	Sequencing	Split read and paired-end mapping	SCV000320839	nssv13660098, nssv13660097
nssv13660097	intrachromosomal translocation	DGAP225	Sequencing	Split read and paired-end mapping	SCV000320839	nssv13660099, nssv13660098

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv13660098	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	22,580,380	22,580,380	+
nssv13660099	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	22,580,380	22,580,380	-
nssv13660099	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	31,095,459	31,095,459	+
nssv13660097	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	31,095,460	31,095,460	+
nssv13660097	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	33,542,762	33,542,762	-
nssv13660098	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	33,542,762	33,542,762	+
nssv13660098	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	22,582,003	22,582,003	+
nssv13660099	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	22,582,003	22,582,003	-
nssv13660099	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	31,564,665	31,564,665	+
nssv13660097	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	31,564,666	31,564,666	+
nssv13660097	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	34,011,968	34,011,968	-
nssv13660098	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	34,011,968	34,011,968	+

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
nssv13660098	DGAP225	interchromosomal translocation		SCV000320839	Female	nssv13660099, nssv13660097
nssv13660099	DGAP225	interchromosomal translocation		SCV000320839	Female	nssv13660098, nssv13660097
nssv13660097	DGAP225	intrachromosomal translocation		SCV000320839	Female	nssv13660099, nssv13660098

No genotype data were submitted for this variant

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