A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv673192



Internal ID15409844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193418687..193420916hg38UCSC Ensembl
Innerchr3:193136476..193138705hg19UCSC Ensembl
Innerchr3:194619170..194621399hg18UCSC Ensembl
Innerchr3:194619178..194621407hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382230
hg192230
hg182230
hg172230
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516400
Supporting Variants
Samples
Known GenesATP13A4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv673192
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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