A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463272



Internal ID15176651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111980473..112014275hg38UCSC Ensembl
Innerchr1:112523095..112556897hg19UCSC Ensembl
Innerchr1:112324618..112358420hg18UCSC Ensembl
Innerchr1:112235137..112268939hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3833803
hg1933803
hg1833803
hg1733803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539295
SamplesHGDP00814
Known GenesKCND3, LOC643355
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv463272
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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