A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462023



Internal ID15175402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:26872627..26919239hg38UCSC Ensembl
Innerchr5:26872736..26919347hg19UCSC Ensembl
Innerchr5:26908493..26955104hg18UCSC Ensembl
Innerchr5:26908493..26955104hg17UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3846613
hg1946612
hg1846612
hg1746612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538315
Samples1782681091_A
Known GenesCDH9
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)nsv462023
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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