A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537117



Internal ID15504193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62027013..62058934hg38UCSC Ensembl
Innerchr3:62012687..62044608hg19UCSC Ensembl
Innerchr3:61987727..62019648hg18UCSC Ensembl
Innerchr3:61987727..62019648hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3831922
hg1931922
hg1831922
hg1731922
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460575
Supporting Variants
Samples1780862586_A
Known GenesPTPRG
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)nssv537117
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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