A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv551858



Internal ID16339267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:89180930..89215450hg38UCSC Ensembl
Innerchr10:90940687..90975207hg19UCSC Ensembl
Innerchr10:90930667..90965187hg18UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg3834521
hg1934521
hg1834521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174260, nssv1174261
SamplesHGDP01399, HGDP00407
Known GenesCH25H, LIPA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv551858
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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