A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124688



Internal ID19284128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:83640056..83644956hg38UCSC Ensembl
Outerchr14:84106400..84111300hg19UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg384901
hg194901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976743
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124688
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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