A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540584



Internal ID15512310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:133418294..133540655hg38UCSC Ensembl
Innerchr7:133103048..133225409hg19UCSC Ensembl
Innerchr7:132753588..132875949hg18UCSC Ensembl
Innerchr7:132560303..132682664hg17UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38122362
hg19122362
hg18122362
hg17122362
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464725
Supporting Variants
SamplesNINDS_229
Known GenesEXOC4
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)nssv540584
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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