A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460505



Internal ID15173884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:4677471..4693997hg38UCSC Ensembl
Innerchr1:4737531..4754057hg19UCSC Ensembl
Innerchr1:4637391..4653917hg18UCSC Ensembl
Innerchr1:4647904..4664430hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3816527
hg1916527
hg1816527
hg1716527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537066
Samples1780862093_A
Known GenesAJAP1
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)nsv460505
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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