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dbVar

Database of genomic structural variation

nsv5034204

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:72,519,398

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: 189732 SVs from 154 studies. See in: genome view

Submitted genomic45,103,677-117,623,076

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5034204	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	45,103,678 (-1, +1)	117,623,075 (+1)
nsv5034204	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	45,105,695 (-1, +1)	118,544,230 (+1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16476692	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16476692	Submitted genomic		NC_000004.12:g.(45 103677_45103679)_( ?_117623076)inv	GRCh38 (hg38)		NC_000004.12	Chr4	45,103,678 (-1, +1)	117,623,075 (+1)
nssv16476692	Remapped	Good	NC_000004.11:g.(45 105694_45105696)_( ?_118544231)inv	GRCh37.p13	First Pass	NC_000004.11	Chr4	45,105,695 (-1, +1)	118,544,230 (+1)

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)
nssv16476692	<0.001	1	29246

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