A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056032



Internal ID105181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7317068..7321910hg38UCSC Ensembl
chr12:7469664..7474506hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384843
hg194843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510383
Supporting Variants
Samples
Known GenesACSM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056032
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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