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dbVar

Database of genomic structural variation

nsv6363042

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:2,400

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: 154 SVs from 43 studies. See in: genome view

Submitted genomic11,066,601-11,069,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6363042	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	11,066,601	11,069,000
nsv6363042	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	11,108,287	11,110,686

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18092008	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18092008	Submitted genomic		NC_000003.12:g.110 66601_11069000del	GRCh38 (hg38)		NC_000003.12	Chr3	11,066,601	11,069,000
nssv18092008	Remapped	Perfect	NC_000003.11:g.111 08287_11110686del	GRCh37.p13	First Pass	NC_000003.11	Chr3	11,108,287	11,110,686

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)
nssv18092008	0.047	1768	37790

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