A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697416



Internal ID15434068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:194613468..194633785hg38UCSC Ensembl
Innerchr3:194334197..194354514hg19UCSC Ensembl
Innerchr3:195815486..195835803hg18UCSC Ensembl
Innerchr3:195815494..195835811hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3820318
hg1920318
hg1820318
hg1720318
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520433
Supporting Variants
Samples
Known GenesTMEM44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697416
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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