A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14037680



Internal ID21159897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:159604857..159604857hg38UCSC Ensembl
chr6:160025889..160025889hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3066560
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)nssv14037680
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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