A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114550



Internal ID18901170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87347091..87353146hg38UCSC Ensembl
Outerchr4:88268243..88274298hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg386056
hg196056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974459
SamplesKWS2
Known GenesHSD17B11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114550
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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