A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047702



Internal ID21179748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42884966..42884966hg38UCSC Ensembl
chr8:42740109..42740109hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38822
hg19822
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026703
SamplesNA12878
Known GenesRNF170
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)nsv3047702
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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