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dbVar

Database of genomic structural variation

nsv6134479

Organism: Homo sapiens

Study:nstd213 (Pham et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:43,365

Links to Other Resources

Overlapping Genes

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: 833 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):130,044,539-130,087,903

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6134479	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	130,044,539	130,044,554	130,087,888	130,087,903
nsv6134479	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	129,763,382	129,763,397	129,806,731	129,806,746

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17679340	deletion	SAMN20524658	Sequencing	Paired-end mapping	48
nssv17680462	deletion	SAMN20524654	Sequencing	Paired-end mapping	440

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv17679340	Remapped	Perfect	NC_000003.12:g.(13 0044539_130044554) _(130087888_130087 903)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	130,044,539	130,044,554	130,087,888	130,087,903
nssv17680462	Remapped	Perfect	NC_000003.12:g.(13 0044539_130044554) _(130087888_130087 903)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	130,044,539	130,044,554	130,087,888	130,087,903
nssv17679340	Submitted genomic		NC_000003.11:g.(12 9763382_129763397) _(129806731_129806 746)del	GRCh37 (hg19)		NC_000003.11	Chr3	129,763,382	129,763,397	129,806,731	129,806,746
nssv17680462	Submitted genomic		NC_000003.11:g.(12 9763382_129763397) _(129806731_129806 746)del	GRCh37 (hg19)		NC_000003.11	Chr3	129,763,382	129,763,397	129,806,731	129,806,746

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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