A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535057



Internal ID15156806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81406747..81526679hg38UCSC Ensembl
Innerchr17:79380547..79493705hg19UCSC Ensembl
Innerchr17:76995142..77108300hg18UCSC Ensembl
Innerchr17:76995142..77108300hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38119933
hg19113159
hg18113159
hg17113159
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457973
Supporting Variants
Samples1780862304_A
Known GenesACTG1, BAHCC1, MIR3186
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)nssv535057
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer