A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121905



Internal ID18924194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3879799..3880999hg38UCSC Ensembl
Outerchr16:3929800..3931000hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994502, nssv3968569
SamplesKWS1, KWS2
Known GenesCREBBP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121905
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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