A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537324



Internal ID15507192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:113824234..113882123hg38UCSC Ensembl
Innerchr3:113543081..113600970hg19UCSC Ensembl
Innerchr3:115025771..115083660hg18UCSC Ensembl
Innerchr3:115025771..115083660hg17UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3857890
hg1957890
hg1857890
hg1757890
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460822
Supporting Variants
SamplesHGDP00622
Known GenesGRAMD1C
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)nssv537324
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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