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dbVar

Database of genomic structural variation

nsv5039478

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:10,032,985

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: 31648 SVs from 136 studies. See in: genome view

Submitted genomic158,116,539-168,149,530

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5039478	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	158,116,546 (-7)	168,149,530 (-2)
nsv5039478	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	159,037,698 (-7)	169,070,681 (-2)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16476014	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16476014	Submitted genomic		NC_000004.12:g.(15 8116539_?)_(168149 528_?)inv	GRCh38 (hg38)		NC_000004.12	Chr4	158,116,546 (-7)	168,149,530 (-2)
nssv16476014	Remapped	Perfect	NC_000004.11:g.(15 9037691_?)_(169070 679_?)inv	GRCh37.p13	First Pass	NC_000004.11	Chr4	159,037,698 (-7)	169,070,681 (-2)

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)
nssv16476014	<0.001	1	29246

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