A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537804



Internal ID15163423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45757414..45950676hg38UCSC Ensembl
Innerchr1:46223086..46416348hg19UCSC Ensembl
Innerchr1:45995673..46188935hg18UCSC Ensembl
Innerchr1:45935106..46128368hg17UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38193263
hg19193263
hg18193263
hg17193263
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461417
Supporting Variants
SamplesHGDP01189
Known GenesMAST2
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)nssv537804
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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