A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550751



Internal ID16338160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46325790hg38UCSC Ensembl
Innerchr10:47543322..47697026hg19UCSC Ensembl
Innerchr10:47013328..47167032hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38153705
hg19153705
hg18153705
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1112n54
Supporting Variantsnssv1173611, nssv1173609, nssv1173612, nssv747425, nssv1173607, nssv747430, nssv1173608, nssv747429, nssv1173610, nssv747428, nssv1173606, nssv747427, nssv747426
SamplesHGDP00644, 1780862274_A, HGDP00684, HGDP00693, HGDP00945, HGDP00251, HGDP00037
Known GenesANTXRL, ANTXRLP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550751
Frequency
Sample Size17421
Observed Gain12
Observed Loss1
Observed Complex0
Frequencyn/a


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