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dbVar

Database of genomic structural variation

nsv6487978

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:373

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

Submitted genomic39,030,485-39,030,857

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6487978	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	39,030,485	39,030,857
nsv6487978	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	39,604,622	39,604,994

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18008665	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18008665	Submitted genomic		NC_000013.11:g.390 30485_39030857del	GRCh38 (hg38)		NC_000013.11	Chr13	39,030,485	39,030,857
nssv18008665	Remapped	Perfect	NC_000013.10:g.396 04622_39604994del	GRCh37.p13	First Pass	NC_000013.10	Chr13	39,604,622	39,604,994

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18008665	0.001	51	37894

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