A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538412



Internal ID15504220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59697471..59742784hg38UCSC Ensembl
Innerchr5:58993297..59038610hg19UCSC Ensembl
Innerchr5:59029054..59074367hg18UCSC Ensembl
Innerchr5:59029054..59074367hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3845314
hg1945314
hg1845314
hg1745314
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462191
Supporting Variants
Samples1780862596_A
Known GenesPDE4D
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)nssv538412
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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