A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538327



Internal ID15505950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76482359..76553912hg38UCSC Ensembl
Innerchr1:76948044..77019597hg19UCSC Ensembl
Innerchr1:76720632..76792185hg18UCSC Ensembl
Innerchr1:76660065..76731618hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3871554
hg1971554
hg1871554
hg1771554
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462039
Supporting Variants
SamplesHGDP00290
Known GenesST6GALNAC3
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)nssv538327
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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