A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136221



Internal ID18938315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:84617794..84618794hg38UCSC Ensembl
Outerchr16:84651400..84652400hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989835
SamplesKWS2
Known GenesCOTL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136221
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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