A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469923



Internal ID6059529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:378188..1323564hg19UCSC Ensembl
Innerchr11:368188..1280140hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv546017, nssv546021, nssv546019, nssv546005, nssv546006, nssv546008, nssv546016, nssv546018, nssv546012, nssv546003, nssv546025, nssv546015, nssv546022, nssv546026, nssv546007, nssv546023, nssv546013, nssv546024, nssv546010, nssv546002, nssv546011, nssv546014, nssv546004
SamplesHGDP00313, HGDP00288, HGDP00546, HGDP00298, HGDP00789, HGDP00302, HGDP00550, HGDP00323, HGDP00825, HGDP00978, HGDP00881, HGDP00556, HGDP00543, HGDP00882, HGDP00657, HGDP00661
Known GenesANO9, AP2A2, B4GALNT4, C11orf35, CD151, CDHR5, CEND1, CHID1, DEAF1, DRD4, EFCAB4A, EPS8L2, HRAS, IRF7, LOC143666, LRRC56, MIR210, MIR210HG, MUC2, MUC5B, MUC6, PDDC1, PHRF1, PIDD, PKP3, PNPLA2, POLR2L, PTDSS2, RASSF7, RNH1, RPLP2, SCT, SIGIRR, SLC25A22, SNORA52, TALDO1, TMEM80, TOLLIP, TSPAN4
Method
AnalysisOverlapping CNVs were merged. The positions are based on the farthest SNPs observed anomg any individuals with the CNV.
PlatformIllumina HumanHap550 Genotyping BeadChip v1 + v3
Comments
ReferenceJakobsson et al 2008
Pubmed ID18288195
Accession Number(s)nsv469923
Frequency
Sample Size443
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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