A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699463



Internal ID15089429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50107518..50547568hg38UCSC Ensembl
Innerchr3:50144951..50584999hg19UCSC Ensembl
Innerchr3:50119955..50560003hg18UCSC Ensembl
Innerchr3:50119955..50560003hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38440051
hg19440049
hg18440049
hg17440049
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523662
Supporting Variants
Samples
Known GenesCACNA2D2, CYB561D2, GNAI2, GNAT1, HYAL1, HYAL2, HYAL3, IFRD2, LSMEM2, MIR5787, MIR6872, NAT6, NPRL2, RASSF1, RBM5, SEMA3B, SEMA3F, SLC38A3, TMEM115, TUSC2, ZMYND10
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699463
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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