A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542963



Internal ID15512355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196853900..196951018hg38UCSC Ensembl
Innerchr1:196823030..196920148hg19UCSC Ensembl
Innerchr1:195089653..195186771hg18UCSC Ensembl
Innerchr1:193554687..193651805hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3897119
hg1997119
hg1897119
hg1797119
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467772
Supporting Variants
SamplesNINDS_235
Known GenesCFHR2, CFHR4
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)nssv542963
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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