A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469162



Internal ID15182541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21379166..21415117hg38UCSC Ensembl
Innerchr12:21532100..21568051hg19UCSC Ensembl
Innerchr12:21423367..21459318hg18UCSC Ensembl
Innerchr12:21423367..21459318hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3835952
hg1935952
hg1835952
hg1735952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544127
SamplesNINDS_125
Known GenesIAPP, SLCO1A2
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)nsv469162
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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