A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070329



Internal ID18970705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12901242..12901943hg38UCSC Ensembl
chr16:12995099..12995800hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764771
SamplesKWP1
Known GenesSHISA9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070329
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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