A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462574



Internal ID15175953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178842681..178886077hg38UCSC Ensembl
Innerchr5:178269682..178313078hg19UCSC Ensembl
Innerchr5:178202288..178245684hg18UCSC Ensembl
Innerchr5:178202288..178245684hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3843397
hg1943397
hg1843397
hg1743397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538706
SamplesHGDP00286
Known GenesZNF354B
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)nsv462574
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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