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dbVar

Database of genomic structural variation

nsv6544545

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:1,478

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: 124 SVs from 23 studies. See in: genome view

Submitted genomic202,953,275-202,954,752

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6544545	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	202,953,275	202,954,752
nsv6544545	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	203,817,998	203,819,475

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18257779	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18257779	Submitted genomic		NC_000002.12:g.202 953275_202954752in v	GRCh38 (hg38)		NC_000002.12	Chr2	202,953,275	202,954,752
nssv18257779	Remapped	Perfect	NC_000002.11:g.203 817998_203819475in v	GRCh37.p13	First Pass	NC_000002.11	Chr2	203,817,998	203,819,475

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)
nssv18257779	<0.001	1	39304

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