A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542354



Internal ID15503346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190706406..190800664hg38UCSC Ensembl
Innerchr1:190675536..190769794hg19UCSC Ensembl
Innerchr1:188942159..189036417hg18UCSC Ensembl
Innerchr1:187407193..187501451hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3894259
hg1994259
hg1894259
hg1794259
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466916
Supporting Variants
Samples1780862202_A
Known GenesLOC440704
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)nssv542354
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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