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dbVar

Database of genomic structural variation

nsv2781970

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: 108 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):213,781,426-213,781,426

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781970	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	213,781,426	213,781,426	+
nsv2781970	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	213,781,437	213,781,437	+
nsv2781970	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	58,350,993	58,350,993	+
nsv2781970	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	58,350,998	58,350,998	+
nsv2781970	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	213,954,769	213,954,769	+
nsv2781970	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	213,954,780	213,954,780	+
nsv2781970	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	59,217,159	59,217,159	+
nsv2781970	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	59,217,164	59,217,164	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660489	interchromosomal translocation	NIJ18	Sequencing	Split read and paired-end mapping	SCV000320967	nssv13660490
nssv13660490	interchromosomal translocation	NIJ18	Sequencing	Split read and paired-end mapping	SCV000320967	nssv13660489

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv13660489	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	213,781,426	213,781,426	+
nssv13660490	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	213,781,437	213,781,437	+
nssv13660490	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	58,350,993	58,350,993	+
nssv13660489	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	58,350,998	58,350,998	+
nssv13660489	Submitted genomic		GRCh37 (hg19)		NC_000001.10	Chr1	213,954,769	213,954,769	+
nssv13660490	Submitted genomic		GRCh37 (hg19)		NC_000001.10	Chr1	213,954,780	213,954,780	+
nssv13660490	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	59,217,159	59,217,159	+
nssv13660489	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	59,217,164	59,217,164	+

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
nssv13660489	NIJ18	interchromosomal translocation		SCV000320967	Male	nssv13660490
nssv13660490	NIJ18	interchromosomal translocation		SCV000320967	Male	nssv13660489

No genotype data were submitted for this variant

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