A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537448



Internal ID15508602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:173511984..173571491hg38UCSC Ensembl
Innerchr3:173229774..173289281hg19UCSC Ensembl
Innerchr3:174712468..174771975hg18UCSC Ensembl
Innerchr3:174712476..174771983hg17UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3859508
hg1959508
hg1859508
hg1759508
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460992
Supporting Variants
SamplesHGDP00869
Known GenesNLGN1
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)nssv537448
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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