A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148242



Internal ID19196608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1514072..1515673hg38UCSC Ensembl
Outerchr4:1515799..1517400hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001753
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148242
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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