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dbVar

Database of genomic structural variation

nsv2781839

Organism: Homo sapiens

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

Variant Calls:1
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: 141 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):120,216,282-120,216,282

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781839	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	120,216,282	120,216,282	+
nsv2781839	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	81,477,505	81,477,505	+
nsv2781839	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187544.1	Chr4\|NT_18 7544.1	52,099	52,099	+
nsv2781839	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	121,137,437	121,137,437	+
nsv2781839	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	81,106,821	81,106,821	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID
nssv13660168	interchromosomal translocation	DGAP256	Sequencing	Split read and paired-end mapping	SCV000320859

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv13660168	Remapped	Perfect	GRCh38.p12	Second Pass	NT_187544.1	Chr4\|NT_18 7544.1	52,099	52,099	+
nssv13660168	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	120,216,282	120,216,282	+
nssv13660168	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	81,477,505	81,477,505	+
nssv13660168	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	121,137,437	121,137,437	+
nssv13660168	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	81,106,821	81,106,821	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	Type	Clinical Interpretation	ClinVar ID	Gender
nssv13660168	DGAP256	interchromosomal translocation		SCV000320859	Male

No genotype data were submitted for this variant

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