A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462028



Internal ID15522093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76482359..76510837hg38UCSC Ensembl
Innerchr1:76948044..76976522hg19UCSC Ensembl
Innerchr1:76720632..76749110hg18UCSC Ensembl
Innerchr1:76660065..76688543hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3828479
hg1928479
hg1828479
hg1728479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538318
SamplesHGDP00307
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)nsv462028
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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