A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14017111



Internal ID21169091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:103992729..103992729hg38UCSC Ensembl
chr10:105752487..105752487hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3064173
Supporting Variants
SamplesNA12878
Known GenesSLK
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)nssv14017111
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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