A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14031085



Internal ID21163325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59943916..59943916hg38UCSC Ensembl
chr17:58021277..58021277hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3056219
Supporting Variants
SamplesNA12878
Known GenesRPS6KB1
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)nssv14031085
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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