A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046710



Internal ID21178756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76019529..76019529hg38UCSC Ensembl
chr4:76940682..76940682hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14025703
SamplesNA12878
Known GenesART3
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)nsv3046710
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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