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dbVar

Database of genomic structural variation

nsv6539296

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:3,562

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: 384 SVs from 55 studies. See in: genome view

Submitted genomic240,685,519-240,689,080

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6539296	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	240,685,519	240,689,080
nsv6539296	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	241,624,936	241,628,497

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18257481	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18257481	Submitted genomic		NC_000002.12:g.240 685519_240689080in v	GRCh38 (hg38)		NC_000002.12	Chr2	240,685,519	240,689,080
nssv18257481	Remapped	Perfect	NC_000002.11:g.241 624936_241628497in v	GRCh37.p13	First Pass	NC_000002.11	Chr2	241,624,936	241,628,497

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)
nssv18257481	<0.001	1	39302

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