A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552222



Internal ID15992945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:120467435..120470017hg38UCSC Ensembl
Innerchr10:122226947..122229529hg19UCSC Ensembl
Innerchr10:122216937..122219519hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg382583
hg192583
hg182583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv760271, nssv760272, nssv760270
Samples
Known GenesPPAPDC1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552222
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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