A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14022392



Internal ID21160306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:75172490..75172490hg38UCSC Ensembl
chr9:77787406..77787406hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3062593
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)nssv14022392
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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