A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458997



Internal ID15172376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112556217..112673515hg38UCSC Ensembl
Innerchr2:113313794..113431092hg19UCSC Ensembl
Innerchr2:113030265..113147563hg18UCSC Ensembl
Innerchr2:113030025..113147323hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38117299
hg19117299
hg18117299
hg17117299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535845
SamplesHGDP00948
Known GenesCHCHD5, FLJ42351, POLR1B, SLC20A1
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)nsv458997
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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