A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469190



Internal ID15182569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29459492..29658538hg38UCSC Ensembl
Innerchr12:29612425..29811471hg19UCSC Ensembl
Innerchr12:29503692..29702738hg18UCSC Ensembl
Innerchr12:29503692..29702738hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38199047
hg19199047
hg18199047
hg17199047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544150
SamplesHGDP01003
Known GenesOVCH1, OVCH1-AS1, TMTC1
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)nsv469190
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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