A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv551452



Internal ID16338861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:69243856..69292752hg38UCSC Ensembl
Innerchr10:71003612..71052508hg19UCSC Ensembl
Innerchr10:70673618..70722514hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3848897
hg1948897
hg1848897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv750037
Samples
Known GenesHK1, HKDC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv551452
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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