A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17031452



Internal ID88664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:31917226..31917226hg38UCSC Ensembl
chr10:32206154..32206154hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg386112
hg196112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535564
Supporting Variants
Samples
Known GenesARHGAP12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17031452
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000327


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