A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3059068



Internal ID21190818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94950282..94950592hg38UCSC Ensembl
chr12:95344058..95344368hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020678
SamplesCHM1
Known Genes
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3059068
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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