A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14033568



Internal ID21155711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62954360..62954360hg38UCSC Ensembl
chr3:62940035..62940035hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3066430
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)nssv14033568
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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