A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455662



Internal ID15515727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2852977..2912986hg38UCSC Ensembl
Innerchr1:2769542..2829551hg19UCSC Ensembl
Innerchr1:2759402..2819411hg18UCSC Ensembl
Innerchr1:2792699..2852708hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3860010
hg1960010
hg1860010
hg1760010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533180
SamplesHGDP00515
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)nsv455662
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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