A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056220



Internal ID21188133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63488532..63488532hg38UCSC Ensembl
chr17:61565893..61565893hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14028946
SamplesNA12878
Known GenesACE
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)nsv3056220
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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