A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550754



Internal ID15991477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46331279hg38UCSC Ensembl
Innerchr10:47543322..47702515hg19UCSC Ensembl
Innerchr10:47013328..47172521hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38159194
hg19159194
hg18159194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1109n54
Supporting Variantsnssv1173636, nssv1173633, nssv1173635, nssv1173632, nssv1173634
SamplesHGDP01296, HGDP00428, HGDP00888, HGDP00681, HGDP00364
Known GenesANTXRL, ANTXRLP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550754
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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