A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536055



Internal ID15157177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128285065..128360641hg38UCSC Ensembl
Innerchr2:129042639..129118215hg19UCSC Ensembl
Innerchr2:128759109..128834685hg18UCSC Ensembl
Innerchr2:128758869..128834445hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3875577
hg1975577
hg1875577
hg1775577
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459263
Supporting Variants
Samples1780862444_A
Known GenesHS6ST1
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)nssv536055
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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