A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460531



Internal ID15173910
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537083
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)nsv460531
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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