A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954855



Internal ID16957042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50152468..50439169hg38UCSC Ensembl
Outerchr3:50189901..50476600hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38286702
hg19286700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001385
SamplesBILGI_BIOE
Known GenesCACNA2D2, CYB561D2, GNAI2, GNAT1, HYAL1, HYAL2, HYAL3, IFRD2, LSMEM2, MIR5787, MIR6872, NAT6, NPRL2, RASSF1, SEMA3B, SEMA3F, SLC38A3, TMEM115, TUSC2, ZMYND10
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954855
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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