A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537488



Internal ID15502168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:186477534..186511434hg38UCSC Ensembl
Innerchr3:186195323..186229223hg19UCSC Ensembl
Innerchr3:187678017..187711917hg18UCSC Ensembl
Innerchr3:187678025..187711925hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3833901
hg1933901
hg1833901
hg1733901
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461036
Supporting Variants
Samples1780854205_A
Known GenesLOC253573
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)nssv537488
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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