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dbVar

Database of genomic structural variation

nsv6518600

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:486

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: 241 SVs from 37 studies. See in: genome view

Submitted genomic74,361,328-74,361,813

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6518600	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	74,361,328	74,361,813
nsv6518600	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	72,357,467	72,357,952

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18038413	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18038413	Submitted genomic		NC_000017.11:g.743 61328_74361813del	GRCh38 (hg38)		NC_000017.11	Chr17	74,361,328	74,361,813
nssv18038413	Remapped	Perfect	NC_000017.10:g.723 57467_72357952del	GRCh37.p13	First Pass	NC_000017.10	Chr17	72,357,467	72,357,952

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)
nssv18038413	<0.001	2	35656

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