A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14034899



Internal ID21165869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112370032..112370032hg38UCSC Ensembl
chr8:113382261..113382261hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3050821
Supporting Variants
SamplesNA12878
Known GenesCSMD3
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)nssv14034899
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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