A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459988



Internal ID15173367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:186500151..186575956hg38UCSC Ensembl
Innerchr2:187364878..187440683hg19UCSC Ensembl
Innerchr2:187073123..187148928hg18UCSC Ensembl
Innerchr2:187190384..187266189hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3875806
hg1975806
hg1875806
hg1775806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536626
SamplesHGDP00737
Known GenesZC3H15
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)nsv459988
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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