A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979765



Internal ID19217517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:70223428..70223544hg38UCSC Ensembl
Outerchr14:70690145..70690261hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142993
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979765
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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