A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14031489



Internal ID21163578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:66125843..66125843hg38UCSC Ensembl
chr9:42395419..42395419hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3048309
Supporting Variants
SamplesNA12878
Known GenesANKRD20A2, ANKRD20A3
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)nssv14031489
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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