A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14031948



Internal ID21154186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117924295..117924295hg38UCSC Ensembl
chr6:118245458..118245458hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3061087
Supporting Variants
SamplesCHM1
Known GenesSLC35F1
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)nssv14031948
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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