A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455731



Internal ID15169110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121230451..121249371hg38UCSC Ensembl
Innerchr12:121668254..121687174hg19UCSC Ensembl
Innerchr12:120152637..120171557hg18UCSC Ensembl
Innerchr12:120130974..120149894hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3818921
hg1918921
hg1818921
hg1718921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533226
SamplesHGDP01174
Known GenesCAMKK2, P2RX4
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)nsv455731
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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