A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545480



Internal ID16332889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12805784..12854043hg38UCSC Ensembl
Innerchr1:12865920..12913896hg19UCSC Ensembl
Innerchr1:12788507..12836483hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3848260
hg1947977
hg1847977
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv123n54
Supporting Variantsnssv710111, nssv710086, nssv710098, nssv710085, nssv710092, nssv1173736, nssv710112, nssv710102, nssv710093, nssv710099, nssv1173734, nssv710107, nssv710094, nssv710088, nssv710110, nssv1173731, nssv710095, nssv710091, nssv1173735, nssv710109, nssv710087, nssv710104, nssv710105, nssv710101, nssv710100, nssv710113, nssv710090, nssv1173730, nssv710108, nssv710106, nssv710089, nssv1173733, nssv710096, nssv710097, nssv1173732, nssv710103
SamplesHGDP01352, HGDP00707, NINDS_90, HGDP00869, 1780854216_A, HGDP01400, HGDP00364
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545480
Frequency
Sample Size17421
Observed Gain7
Observed Loss29
Observed Complex0
Frequencyn/a


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