A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516400



Internal ID15443693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193418687..193431661hg38UCSC Ensembl
Innerchr3:193136476..193149450hg19UCSC Ensembl
Innerchr3:194619170..194632144hg18UCSC Ensembl
Innerchr3:194619178..194632152hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3812975
hg1912975
hg1812975
hg1712975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv309n21
Supporting Variantsnssv692098, nssv686072, nssv673192, nssv676781, nssv685183, nssv679006, nssv682354, nssv660564, nssv658744, nssv678517, nssv686501, nssv662055, nssv661767, nssv676117, nssv690078, nssv663046, nssv687967, nssv685762, nssv684937, nssv690290, nssv687525, nssv683955, nssv675232, nssv688528, nssv663706, nssv670693, nssv668051, nssv693942, nssv674128
Samples
Known GenesATP13A4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516400
Frequency
Sample Size2026
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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