A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467783



Internal ID15527848
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv57n27
Supporting Variantsnssv542972
SamplesNINDS_167
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)nsv467783
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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