A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468990



Internal ID15529055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7576837..7648936hg38UCSC Ensembl
Innerchr12:7729433..7801532hg19UCSC Ensembl
Innerchr12:7620700..7692799hg18UCSC Ensembl
Innerchr12:7620700..7692799hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3872100
hg1972100
hg1872100
hg1772100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544011
Samples1780862093_A
Known Genes
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)nsv468990
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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