A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994499



Internal ID19219885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2537799..2538199hg38UCSC Ensembl
Outerchr16:2587800..2588200hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143804
Supporting Variants
SamplesKWS1
Known GenesPDPK1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994499
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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