A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989789



Internal ID18900753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:60248982..60249982hg38UCSC Ensembl
Outerchr14:60715700..60716700hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136179
Supporting Variants
SamplesKWS2
Known GenesPPM1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989789
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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