A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3062394



Internal ID21193955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79014085..79014085hg38UCSC Ensembl
chr6:79723802..79723802hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018445
SamplesCHM1
Known GenesPHIP
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)nsv3062394
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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