A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542543



Internal ID15502910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195222563..195311294hg38UCSC Ensembl
Innerchr1:195191693..195280424hg19UCSC Ensembl
Innerchr1:193458316..193547047hg18UCSC Ensembl
Innerchr1:191923350..192012081hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3888732
hg1988732
hg1888732
hg1788732
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467194
Supporting Variants
Samples1780862001_A
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)nssv542543
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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