A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540568



Internal ID15163896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:117702717..117753462hg38UCSC Ensembl
Innerchr7:117342771..117393516hg19UCSC Ensembl
Innerchr7:117130007..117180752hg18UCSC Ensembl
Innerchr7:116936722..116987467hg17UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3850746
hg1950746
hg1850746
hg1750746
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464695
Supporting Variants
SamplesHGDP01267
Known GenesCTTNBP2
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)nssv540568
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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