A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537726



Internal ID15512026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34125316..34270180hg38UCSC Ensembl
Innerchr4:34126938..34271802hg19UCSC Ensembl
Innerchr4:33803333..33948197hg18UCSC Ensembl
Innerchr4:33949504..34094368hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38144865
hg19144865
hg18144865
hg17144865
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461322
Supporting Variants
SamplesNINDS_189
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)nssv537726
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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