A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113676



Internal ID18910866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103417210..103417273hg38UCSC Ensembl
Outerchr14:103883547..103883610hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990884, nssv3970935
SamplesKWS2, KWS1
Known GenesMARK3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113676
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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