A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071256



Internal ID18974050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4481081..4481151hg38UCSC Ensembl
chr16:4531082..4531152hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771465
SamplesKWP1
Known GenesHMOX2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071256
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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