A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544007



Internal ID15163430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4289921..4302638hg38UCSC Ensembl
Innerchr12:4399087..4411804hg19UCSC Ensembl
Innerchr12:4269348..4282065hg18UCSC Ensembl
Innerchr12:4269348..4282065hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3812718
hg1912718
hg1812718
hg1712718
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468984
Supporting Variants
SamplesHGDP01191
Known GenesCCND2
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)nssv544007
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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