A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536522



Internal ID15503205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:154379822..154401008hg38UCSC Ensembl
Innerchr2:155236334..155257520hg19UCSC Ensembl
Innerchr2:154944580..154965766hg18UCSC Ensembl
Innerchr2:155061842..155083028hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3821187
hg1921187
hg1821187
hg1721187
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459851
Supporting Variants
Samples1780862109_A
Known GenesGALNT13
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)nssv536522
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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