A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3050223



Internal ID21182272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128798367..128798367hg38UCSC Ensembl
chr7:128438421..128438421hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38758
hg19758
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14035950
SamplesNA12878
Known GenesCCDC136
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)nsv3050223
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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