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dbVar

Database of genomic structural variation

nsv6538365

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:6,005,546

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: 13355 SVs from 109 studies. See in: genome view

Submitted genomic178,815,320-184,820,865

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6538365	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	178,815,320	184,820,865
nsv6538365	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	178,784,455	184,789,999

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18247811	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18247811	Submitted genomic		NC_000001.11:g.178 815320_184820865in v	GRCh38 (hg38)		NC_000001.11	Chr1	178,815,320	184,820,865
nssv18247811	Remapped	Perfect	NC_000001.10:g.178 784455_184789999in v	GRCh37.p13	First Pass	NC_000001.10	Chr1	178,784,455	184,789,999

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)
nssv18247811	<0.001	1	39304

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