A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590255



Internal ID16030978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50210391..50399396hg38UCSC Ensembl
Innerchr3:50247824..50436827hg19UCSC Ensembl
Innerchr3:50222828..50411831hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38189006
hg19189004
hg18189004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151772
SamplesNINDS_54
Known GenesCACNA2D2, CYB561D2, GNAI2, HYAL1, HYAL2, HYAL3, IFRD2, LSMEM2, MIR5787, MIR6872, NAT6, NPRL2, RASSF1, SEMA3B, SLC38A3, TMEM115, TUSC2, ZMYND10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590255
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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