A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462772



Internal ID15522837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102973239..103034340hg38UCSC Ensembl
Innerchr1:103438795..103499896hg19UCSC Ensembl
Innerchr1:103211383..103272484hg18UCSC Ensembl
Innerchr1:103150816..103211917hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3861102
hg1961102
hg1861102
hg1761102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538860
Samples1780862310_A
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)nsv462772
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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