A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535012



Internal ID15512776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78927344..78962677hg38UCSC Ensembl
Innerchr17:76923426..76958759hg19UCSC Ensembl
Innerchr17:74435021..74470354hg18UCSC Ensembl
Innerchr17:74435021..74470354hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3835334
hg1935334
hg1835334
hg1735334
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457918
Supporting Variants
SamplesNINDS_61
Known Genes
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)nssv535012
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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