A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537486



Internal ID15166177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:184539010..184613658hg38UCSC Ensembl
Innerchr3:184256798..184331446hg19UCSC Ensembl
Innerchr3:185739492..185814140hg18UCSC Ensembl
Innerchr3:185739500..185814148hg17UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3874649
hg1974649
hg1874649
hg1774649
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461034
Supporting Variants
SamplesNINDS_70
Known GenesEPHB3
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)nssv537486
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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