A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538211



Internal ID15509556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189386148..189545969hg38UCSC Ensembl
Innerchr4:190307302..190467123hg19UCSC Ensembl
Innerchr4:190544296..190704117hg18UCSC Ensembl
Innerchr4:190682451..190842272hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38159822
hg19159822
hg18159822
hg17159822
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461883
Supporting Variants
SamplesHGDP01033
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)nssv538211
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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