A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127482



Internal ID18922624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28481762..28481829hg38UCSC Ensembl
Outerchr16:28493083..28493150hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955197
SamplesKWS1
Known GenesCLN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127482
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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