A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468997



Internal ID15529062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7818125..7916285hg38UCSC Ensembl
Innerchr12:7970721..8068881hg19UCSC Ensembl
Innerchr12:7861988..7960148hg18UCSC Ensembl
Innerchr12:7861988..7960148hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3898161
hg1998161
hg1898161
hg1798161
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv179n27
Supporting Variantsnssv544015
SamplesHGDP00929
Known GenesSLC2A14
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)nsv468997
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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