A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516623



Internal ID15097230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46638573..46811189hg38UCSC Ensembl
Innerchr3:46680063..46852679hg19UCSC Ensembl
Innerchr3:46655067..46827683hg18UCSC Ensembl
Innerchr3:46655067..46827683hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38172617
hg19172617
hg18172617
hg17172617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672630, nssv674543, nssv684369, nssv659277, nssv656807, nssv669627, nssv674854, nssv683898, nssv659435
Samples
Known GenesALS2CL, PRSS45, PRSS46, PRSS50, TMIE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516623
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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