A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046073



Internal ID21178119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73563848..73563848hg38UCSC Ensembl
chr6:74273571..74273571hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031855
SamplesNA12878
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)nsv3046073
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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