A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065058



Internal ID21196494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113979963..113979963hg38UCSC Ensembl
chr2:114737540..114737540hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14035731
SamplesNA12878
Known GenesLOC100499194, LOC440900
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)nsv3065058
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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