A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537083



Internal ID15166023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50210391..50399396hg38UCSC Ensembl
Innerchr3:50247824..50436827hg19UCSC Ensembl
Innerchr3:50222828..50411831hg18UCSC Ensembl
Innerchr3:50222828..50411831hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38189006
hg19189004
hg18189004
hg17189004
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460531
Supporting Variants
SamplesNINDS_54
Known GenesCACNA2D2, CYB561D2, GNAI2, HYAL1, HYAL2, HYAL3, IFRD2, LSMEM2, MIR5787, MIR6872, NAT6, NPRL2, RASSF1, SEMA3B, SLC38A3, TMEM115, TUSC2, ZMYND10
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)nssv537083
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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