A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556994



Internal ID15997717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1628143..1634677hg38UCSC Ensembl
Innerchr12:1737309..1743843hg19UCSC Ensembl
Innerchr12:1607570..1614104hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386535
hg196535
hg186535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786381
Samples
Known GenesWNT5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556994
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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