A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543988



Internal ID15159194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3608153..4077065hg38UCSC Ensembl
Innerchr2:3655743..4124656hg19UCSC Ensembl
Innerchr2:3633618..4102531hg18UCSC Ensembl
Innerchr2:3149112..3618025hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38468913
hg19468914
hg18468914
hg17468914
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468961
Supporting Variants
SamplesHGDP00259
Known GenesALLC, COLEC11, LOC100505964
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)nssv543988
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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