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dbVar

Database of genomic structural variation

nsv6561353

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:1,229

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: 118 SVs from 30 studies. See in: genome view

Submitted genomic143,048,863-143,050,091

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6561353	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	143,048,863	143,050,091
nsv6561353	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	142,767,705	142,768,933

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18262494	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18262494	Submitted genomic		NC_000003.12:g.143 048863_143050091in v	GRCh38 (hg38)		NC_000003.12	Chr3	143,048,863	143,050,091
nssv18262494	Remapped	Perfect	NC_000003.11:g.142 767705_142768933in v	GRCh37.p13	First Pass	NC_000003.11	Chr3	142,767,705	142,768,933

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)
nssv18262494	<0.001	6	35284

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