A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14020628



Internal ID21171486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:123881226..123881226hg38UCSC Ensembl
chr10:125640742..125640742hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3052240
Supporting Variants
SamplesNA12878
Known GenesCPXM2
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)nssv14020628
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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