A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138292



Internal ID19283116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:39277672..39277760hg38UCSC Ensembl
Outerchr14:39746876..39746964hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983814, nssv3971862
SamplesKWS2, KWS1
Known GenesCTAGE5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138292
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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