A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121159



Internal ID18903850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3868272..3868500hg38UCSC Ensembl
Outerchr16:3918273..3918501hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1288n106
Supporting Variantsnssv3964387, nssv3954417
SamplesKWS1, KWS2
Known GenesCREBBP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121159
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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