A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124992



Internal ID19267463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:67193185..67193247hg38UCSC Ensembl
Outerchr14:67659902..67659964hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977798
SamplesKWS1
Known GenesFAM71D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124992
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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