A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047581



Internal ID21179627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:34876682..34876682hg38UCSC Ensembl
chr7:34916294..34916294hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020880
SamplesNA12878
Known GenesNPSR1
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)nsv3047581
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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