A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542502



Internal ID15513020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194556757..194668626hg38UCSC Ensembl
Innerchr1:194525887..194637756hg19UCSC Ensembl
Innerchr1:192792510..192904379hg18UCSC Ensembl
Innerchr1:191257544..191369413hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38111870
hg19111870
hg18111870
hg17111870
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467072
Supporting Variants
SamplesNINDS_95
Known Genes
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)nssv542502
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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