A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462750



Internal ID15522815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102890209..102914572hg38UCSC Ensembl
Innerchr1:103355765..103380128hg19UCSC Ensembl
Innerchr1:103128353..103152716hg18UCSC Ensembl
Innerchr1:103067786..103092149hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3824364
hg1924364
hg1824364
hg1724364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538840
SamplesHGDP01337
Known GenesCOL11A1
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)nsv462750
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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