A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536690



Internal ID15156341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211379795..211411985hg38UCSC Ensembl
Innerchr2:212244520..212276710hg19UCSC Ensembl
Innerchr2:211952765..211984955hg18UCSC Ensembl
Innerchr2:212070026..212102216hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3832191
hg1932191
hg1832191
hg1732191
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460065
Supporting Variants
Samples1780862042_A
Known GenesERBB4
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)nssv536690
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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