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dbVar

Database of genomic structural variation

nsv6538546

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:192,562

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: 938 SVs from 72 studies. See in: genome view

Submitted genomic169,465,382-169,657,943

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6538546	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	169,465,382	169,657,943
nsv6538546	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	170,321,892	170,514,453

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18256284	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18256284	Submitted genomic		NC_000002.12:g.169 465382_169657943in v	GRCh38 (hg38)		NC_000002.12	Chr2	169,465,382	169,657,943
nssv18256284	Remapped	Perfect	NC_000002.11:g.170 321892_170514453in v	GRCh37.p13	First Pass	NC_000002.11	Chr2	170,321,892	170,514,453

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)
nssv18256284	<0.001	1	39304

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