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dbVar

Database of genomic structural variation

nsv6517041

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:1,500

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

Submitted genomic55,421,001-55,422,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6517041	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	55,421,001	55,422,500
nsv6517041	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	53,498,362	53,499,861

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18182354	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18182354	Submitted genomic		NC_000017.11:g.554 21001_55422500dup	GRCh38 (hg38)		NC_000017.11	Chr17	55,421,001	55,422,500
nssv18182354	Remapped	Perfect	NC_000017.10:g.534 98362_53499861dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	53,498,362	53,499,861

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)
nssv18182354	<0.001	4	38550

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