A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537955



Internal ID15506068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:89651171..89709750hg38UCSC Ensembl
Innerchr4:90572322..90630901hg19UCSC Ensembl
Innerchr4:90791345..90849924hg18UCSC Ensembl
Innerchr4:90929500..90988079hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3858580
hg1958580
hg1858580
hg1758580
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461580
Supporting Variants
SamplesHGDP00351
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)nssv537955
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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