A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455732



Internal ID15169111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122943026..123090291hg38UCSC Ensembl
Innerchr12:123427573..123574838hg19UCSC Ensembl
Innerchr12:121993526..122140791hg18UCSC Ensembl
Innerchr12:121952453..122099718hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38147266
hg19147266
hg18147266
hg17147266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533227
SamplesHGDP01003
Known GenesABCB9, ARL6IP4, LOC100507091, MIR4304, OGFOD2, PITPNM2
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)nsv455732
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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