A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460136



Internal ID15173515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233335749..233379402hg38UCSC Ensembl
Innerchr2:234244395..234288048hg19UCSC Ensembl
Innerchr2:233909134..233952787hg18UCSC Ensembl
Innerchr2:234026395..234070048hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3843654
hg1943654
hg1843654
hg1743654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv495n27
Supporting Variantsnssv536745
Samples1780862093_A
Known GenesDGKD, SAG
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)nsv460136
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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