A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14030509



Internal ID21160070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125307730..125307730hg38UCSC Ensembl
chr12:125792276..125792276hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3057445
Supporting Variants
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)nssv14030509
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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