A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458873



Internal ID15172252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110099666..110224953hg38UCSC Ensembl
Innerchr2:110857243..110982530hg19UCSC Ensembl
Innerchr2:110214532..110339819hg18UCSC Ensembl
Innerchr2:110214618..110339905hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38125288
hg19125288
hg18125288
hg17125288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv473n27
Supporting Variantsnssv535742
Samples1780862390_A
Known GenesLINC00116, MALL, NPHP1
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)nsv458873
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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