A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071288



Internal ID19323150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48608588..48610689hg38UCSC Ensembl
chr16:48642499..48644600hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg382102
hg192102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765862
SamplesKWP1
Known GenesN4BP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071288
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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