A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537238



Internal ID15157425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:73045804..73094939hg38UCSC Ensembl
Innerchr3:73094955..73144090hg19UCSC Ensembl
Innerchr3:73177645..73226780hg18UCSC Ensembl
Innerchr3:73177645..73226780hg17UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3849136
hg1949136
hg1849136
hg1749136
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460703
Supporting Variants
Samples1780862565_A
Known GenesEBLN2, PPP4R2
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)nssv537238
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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