A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14037211



Internal ID21159433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128452908..128459021hg38UCSC Ensembl
chr8:129465154..129471267hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg386114
hg196114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3065593
Supporting Variants
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)nssv14037211
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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