A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537618



Internal ID15510784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7168835..7190053hg38UCSC Ensembl
Innerchr4:7170562..7191780hg19UCSC Ensembl
Innerchr4:7221463..7242681hg18UCSC Ensembl
Innerchr4:7288634..7309852hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3821219
hg1921219
hg1821219
hg1721219
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461196
Supporting Variants
SamplesHGDP01300
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)nssv537618
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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