A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550752



Internal ID16338161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46330334hg38UCSC Ensembl
Innerchr10:47543322..47701570hg19UCSC Ensembl
Innerchr10:47013328..47171576hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38158249
hg19158249
hg18158249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1109n54
Supporting Variantsnssv747432, nssv1173614, nssv747434, nssv1173628, nssv1173625, nssv1173615, nssv1173626, nssv1173621, nssv1173616, nssv747439, nssv1173622, nssv1173629, nssv1173624, nssv1173613, nssv1173623, nssv1173617, nssv747437, nssv747435, nssv1173630, nssv747436, nssv747438, nssv747433, nssv1173620, nssv1173627, nssv1173618, nssv1173619, nssv747441, nssv747440, nssv1173631, nssv747431
Samples1782681313_A, 1780862360_A, HGDP01352, HGDP01177, HGDP00785, HGDP01379, 1780854296_A, 1787431196_A, HGDP00021, HGDP00136, 1798860592_A, HGDP00658, HGDP00646, HGDP00654, HGDP00157, 1782681296_A, HGDP00127, 1780862307_A, HGDP00208
Known GenesANTXRL, ANTXRLP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550752
Frequency
Sample Size17421
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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