A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3965518



Internal ID18888304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:13198290..13198389hg38UCSC Ensembl
Outerchr16:13292147..13292246hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121516
Supporting Variants
SamplesKWS2
Known GenesSHISA9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3965518
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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