A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138468



Internal ID19251889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81085859..81086212hg38UCSC Ensembl
Outerchr16:81119464..81119817hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972447, nssv3954492
SamplesKWS2, KWS1
Known GenesGCSH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138468
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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