A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057230



Internal ID21189081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6030288..6030605hg38UCSC Ensembl
chr17:5933608..5933925hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv564n140
Supporting Variantsnssv14025362
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)nsv3057230
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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