A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538923



Internal ID15508960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104347464..104368704hg38UCSC Ensembl
Innerchr1:104890086..104911326hg19UCSC Ensembl
Innerchr1:104691609..104712849hg18UCSC Ensembl
Innerchr1:104602107..104623347hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3821241
hg1921241
hg1821241
hg1721241
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462840
Supporting Variants
SamplesHGDP00925
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)nssv538923
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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