A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537782



Internal ID15155374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44433326..44654293hg38UCSC Ensembl
Innerchr1:44898998..45119965hg19UCSC Ensembl
Innerchr1:44671585..44892552hg18UCSC Ensembl
Innerchr1:44568091..44789058hg17UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38220968
hg19220968
hg18220968
hg17220968
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461395
Supporting Variants
Samples1780854105_A
Known GenesMIR5584, RNF220, TMEM53
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)nssv537782
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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