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dbVar

Database of genomic structural variation

nsv6364838

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:7,200

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: 133 SVs from 25 studies. See in: genome view

Submitted genomic120,345,601-120,352,800

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6364838	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	120,345,601	120,352,800
nsv6364838	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	120,064,448	120,071,647

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18207924	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18207924	Submitted genomic		NC_000003.12:g.120 345601_120352800du p	GRCh38 (hg38)		NC_000003.12	Chr3	120,345,601	120,352,800
nssv18207924	Remapped	Perfect	NC_000003.11:g.120 064448_120071647du p	GRCh37.p13	First Pass	NC_000003.11	Chr3	120,064,448	120,071,647

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)
nssv18207924	<0.001	2	39224

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