A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv963017



Internal ID15910287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50115923..50295266hg38UCSC Ensembl
Innerchr3:50153356..50332697hg19UCSC Ensembl
Innerchr3:50128360..50307701hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38179344
hg19179342
hg18179342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv590250
Supporting Variants
Samples
Known GenesGNAI2, GNAT1, HYAL3, IFRD2, LSMEM2, MIR5787, MIR6872, RBM5, SEMA3B, SEMA3F, SLC38A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv963017
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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