A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006292



Internal ID71820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138737501..138742129hg38UCSC Ensembl
chr7:138422246..138426874hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg384629
hg194629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487039
Supporting Variants
Samples
Known GenesATP6V0A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006292
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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