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dbVar

Database of genomic structural variation

nsv2781959

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: 284 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):7,846,337-7,846,337

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781959	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	7,846,337	7,846,337	-
nsv2781959	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	7,846,342	7,846,342	+
nsv2781959	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	82,285,382	82,285,382	+
nsv2781959	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	82,285,384	82,285,384	-
nsv2781959	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	7,846,450	7,846,450	-
nsv2781959	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	7,846,455	7,846,455	+
nsv2781959	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	80,243,258	80,243,258	+
nsv2781959	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	80,243,260	80,243,260	-

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660463	interchromosomal translocation	NIJ3	Sequencing	Split read and paired-end mapping	SCV000320955	nssv13660462
nssv13660462	interchromosomal translocation	NIJ3	Sequencing	Split read and paired-end mapping	SCV000320955	nssv13660463

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv13660463	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	7,846,337	7,846,337	-
nssv13660462	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	7,846,342	7,846,342	+
nssv13660463	Remapped	Perfect	GRCh38.p12	First Pass	NC_000017.11	Chr17	82,285,382	82,285,382	+
nssv13660462	Remapped	Perfect	GRCh38.p12	First Pass	NC_000017.11	Chr17	82,285,384	82,285,384	-
nssv13660463	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	7,846,450	7,846,450	-
nssv13660462	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	7,846,455	7,846,455	+
nssv13660463	Submitted genomic		GRCh37 (hg19)		NC_000017.10	Chr17	80,243,258	80,243,258	+
nssv13660462	Submitted genomic		GRCh37 (hg19)		NC_000017.10	Chr17	80,243,260	80,243,260	-

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
nssv13660463	NIJ3	interchromosomal translocation		SCV000320955	Female	nssv13660462
nssv13660462	NIJ3	interchromosomal translocation		SCV000320955	Female	nssv13660463

No genotype data were submitted for this variant

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