A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071283



Internal ID19318928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30394878..30395779hg38UCSC Ensembl
chr16:30406199..30407100hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765567
SamplesKWP1
Known GenesZNF48
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071283
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer