A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541321



Internal ID15512967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14285189..14303529hg38UCSC Ensembl
Innerchr8:14142698..14161038hg19UCSC Ensembl
Innerchr8:14187069..14205409hg18UCSC Ensembl
Innerchr8:14187069..14205409hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3818341
hg1918341
hg1818341
hg1718341
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465530
Supporting Variants
SamplesNINDS_89
Known GenesSGCZ
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)nssv541321
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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