A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537912



Internal ID15156150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54112728..54125649hg38UCSC Ensembl
Innerchr1:54578401..54591322hg19UCSC Ensembl
Innerchr1:54350989..54363910hg18UCSC Ensembl
Innerchr1:54290422..54303343hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3812922
hg1912922
hg1812922
hg1712922
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461528
Supporting Variants
Samples1780854558_A
Known Genes
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)nssv537912
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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