A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3058467



Internal ID21190233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43128240..43128240hg38UCSC Ensembl
chr17:41280257..41280257hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14027192
SamplesNA12878
Known GenesNBR2
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)nsv3058467
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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