A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469923



Internal ID8523464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:378188..1302334hg38UCSC Ensembl
Innerchr11:378188..1323564hg19UCSC Ensembl
Innerchr11:368188..1280140hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38924147
hg19945377
hg18911953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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, MIR6744, MUC2, MUC5B, MUC6, NS3BP, PDDC1, PHRF1, PIDD, PKP3, PNPLA2, POLR2L, PTDSS2, RASSF7, RNH1, RPLP2, SCT, SIGIRR, SLC25A22, SNORA52, TALDO1, TMEM80, TOLLIP, TSPAN4
MethodSNP array
AnalysisWe used the previously validated default quality control criteria, excluding samples with a log R ratio standard deviation of >0.28, a median B allele frequency of >0.55 or <0.45, or a B allele frequency drift of >0.002 (for more details see Wang et al. 2007). As the PennCNV algorithm is more sensitive and specific to CNVs covering greater numbers of SNPs in the HumanHap550 array, use of a minimum number of SNPs in CNV detection increases the reliability of CNV calls (with a consequent reduction in calls per individual). We set 10 SNPs as the minimum detection threshold in the algorithm.
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceJakobsson_et_al_2008
Pubmed ID18288195
Accession Number(s)nsv469923
Frequency
Sample Size443
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer