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dbVar

Database of genomic structural variation

nsv6315968

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:38,300

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: 272 SVs from 47 studies. See in: genome view

Submitted genomic44,796,801-44,835,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6315968	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	44,796,801	44,835,100
nsv6315968	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	45,262,473	45,300,772

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18201345	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18201345	Submitted genomic		NC_000001.11:g.447 96801_44835100dup	GRCh38 (hg38)		NC_000001.11	Chr1	44,796,801	44,835,100
nssv18201345	Remapped	Perfect	NC_000001.10:g.452 62473_45300772dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	45,262,473	45,300,772

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)
nssv18201345	<0.001	1	39292

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