A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057800



Internal ID21189607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:74894108..74894108hg38UCSC Ensembl
chr15:75186449..75186449hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018453
SamplesNA12878
Known GenesMPI
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)nsv3057800
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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