A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949784



Internal ID16951971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8163674..8297873hg38UCSC Ensembl
Outerchr4:8165401..8299600hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38134200
hg19134200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996656
SamplesBILGI_BIOE
Known GenesHTRA3, SH3TC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949784
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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