A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460753



Internal ID15520818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:85739857..85771266hg38UCSC Ensembl
Innerchr3:85789007..85820416hg19UCSC Ensembl
Innerchr3:85871697..85903106hg18UCSC Ensembl
Innerchr3:85871697..85903106hg17UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3831410
hg1931410
hg1831410
hg1731410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537265
Samples1782681093_A
Known GenesCADM2
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)nsv460753
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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