A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457897



Internal ID15517962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54231956..54275775hg38UCSC Ensembl
Innerchr2:54459093..54502912hg19UCSC Ensembl
Innerchr2:54312597..54356416hg18UCSC Ensembl
Innerchr2:54370744..54414563hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3843820
hg1943820
hg1843820
hg1743820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534995
SamplesNINDS_102
Known GenesACYP2, TSPYL6
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)nsv457897
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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