A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114567



Internal ID19250570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:128014178..128014240hg38UCSC Ensembl
Outerchr4:128935333..128935395hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974478
SamplesKWS2
Known GenesC4orf29
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114567
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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