A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458074



Internal ID15171453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:61692252..62020316hg38UCSC Ensembl
Innerchr2:61919387..62247451hg19UCSC Ensembl
Innerchr2:61772891..62100955hg18UCSC Ensembl
Innerchr2:61831038..62159102hg17UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38328065
hg19328065
hg18328065
hg17328065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535119
SamplesHGDP01371
Known GenesCCT4, COMMD1, FAM161A
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)nsv458074
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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