A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148780



Internal ID18852638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2396113..2396798hg38UCSC Ensembl
Outerchr4:2397840..2398525hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38686
hg19686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997568
SamplesKWB1
Known GenesZFYVE28
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148780
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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