A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537684



Internal ID15507830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12359578..12382323hg38UCSC Ensembl
Innerchr4:12361202..12383947hg19UCSC Ensembl
Innerchr4:11970300..11993045hg18UCSC Ensembl
Innerchr4:12037471..12060216hg17UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3822746
hg1922746
hg1822746
hg1722746
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461270
Supporting Variants
SamplesHGDP00724
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)nssv537684
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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