A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138412



Internal ID18921250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:10910973..10911032hg38UCSC Ensembl
Outerchr16:11004830..11004889hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990981, nssv3954425
SamplesKWS1, KWS2
Known GenesCIITA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138412
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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