A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533248



Internal ID15510371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:16300582..16370115hg38UCSC Ensembl
Innerchr2:16481850..16551383hg19UCSC Ensembl
Innerchr2:16345331..16414864hg18UCSC Ensembl
Innerchr2:16403478..16473011hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3869534
hg1969534
hg1869534
hg1769534
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455763
Supporting Variants
SamplesHGDP01237
Known Genes
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)nssv533248
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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