A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550743



Internal ID16338152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46281263hg38UCSC Ensembl
Innerchr10:47543322..47652499hg19UCSC Ensembl
Innerchr10:47013328..47122505hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38109178
hg19109178
hg18109178
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1111n54
Supporting Variantsnssv1173599, nssv747416, nssv747414, nssv1173594, nssv1173596, nssv747410, nssv1173591, nssv1173589, nssv1173598, nssv1173590, nssv1173588, nssv747412, nssv1173597, nssv747418, nssv747413, nssv747415, nssv747411, nssv1173595, nssv1173593, nssv747417, nssv747419, nssv1173592
SamplesHGDP00815, HGDP01202, HGDP01167, HGDP01187, HGDP00926, HGDP00651, HGDP00928, HGDP00923, HGDP01405, HGDP01029, HGDP00988, HGDP01286
Known GenesANTXRLP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550743
Frequency
Sample Size17421
Observed Gain1
Observed Loss21
Observed Complex0
Frequencyn/a


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