A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138474



Internal ID18915381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:84591826..84591883hg38UCSC Ensembl
Outerchr16:84625432..84625489hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971076, nssv3969901
SamplesKWS1, KWS2
Known GenesCOTL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138474
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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