A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954860



Internal ID16957047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52439285..52456384hg38UCSC Ensembl
Outerchr3:52473301..52490400hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3817100
hg1917100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001390
SamplesBILGI_BIOE
Known GenesNISCH, SEMA3G, TNNC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954860
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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