A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543937



Internal ID15164845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:607107..1124880hg38UCSC Ensembl
Innerchr2:607107..1120566hg19UCSC Ensembl
Innerchr2:597107..1110566hg18UCSC Ensembl
Innerchr2:597107..1110566hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38517774
hg19513460
hg18513460
hg17513460
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468883
Supporting Variants
SamplesNINDS_109
Known GenesLINC01115, SNTG2, TMEM18
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)nssv543937
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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