A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126413



Internal ID18925144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:4272599..4273399hg38UCSC Ensembl
Outerchr16:4322600..4323400hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1290n106
Supporting Variantsnssv3984659
SamplesKWS1
Known GenesTFAP4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126413
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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