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dbVar

Database of genomic structural variation

nsv5040665

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:5,770,368

Publication(s):Abel et al. 2020

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: 14488 SVs from 125 studies. See in: genome view

Submitted genomic94,638,746-100,409,115

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5040665	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	94,638,748 (-2)	100,409,115 (-4)
nsv5040665	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	94,357,592 (-2)	100,127,959 (-4)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16454680	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16454680	Submitted genomic		NC_000003.12:g.(94 638746_?)_(1004091 11_?)inv	GRCh38 (hg38)		NC_000003.12	Chr3	94,638,748 (-2)	100,409,115 (-4)
nssv16454680	Remapped	Perfect	NC_000003.11:g.(94 357590_?)_(1001279 55_?)inv	GRCh37.p13	First Pass	NC_000003.11	Chr3	94,357,592 (-2)	100,127,959 (-4)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16454680	<0.001	1	29246

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