A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057484



Internal ID21189332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6403577..6403577hg38UCSC Ensembl
chr12:6512743..6512743hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029921
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)nsv3057484
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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