A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114551



Internal ID18927841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87379834..87379884hg38UCSC Ensembl
Outerchr4:88300986..88301036hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974460
SamplesKWS2
Known GenesHSD17B11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114551
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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