A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3963144



Internal ID18880257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3868245..3868500hg38UCSC Ensembl
Outerchr16:3918246..3918501hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1120710
Supporting Variants
SamplesKWS2
Known GenesCREBBP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3963144
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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