A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536436



Internal ID15504862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:149122777..149135892hg38UCSC Ensembl
Innerchr2:149979291..149992406hg19UCSC Ensembl
Innerchr2:149687537..149700652hg18UCSC Ensembl
Innerchr2:149804799..149817914hg17UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg3813116
hg1913116
hg1813116
hg1713116
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459718
Supporting Variants
Samples1798860565_A
Known GenesLYPD6B
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)nssv536436
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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