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dbVar

Database of genomic structural variation

nsv6400159

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:249,354

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: 730 SVs from 65 studies. See in: genome view

Submitted genomic27,753,532-28,002,885

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6400159	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	27,753,532	28,002,885
nsv6400159	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	27,721,311	27,970,663

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18235205	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18235205	Submitted genomic		NC_000006.12:g.277 53532_28002885dup	GRCh38 (hg38)		NC_000006.12	Chr6	27,753,532	28,002,885
nssv18235205	Remapped	Perfect	NC_000006.11:g.277 21311_27970663dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	27,721,311	27,970,663

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)
nssv18235205	<0.001	4	39252

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