A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3061414



Internal ID21193054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129144664..129144664hg38UCSC Ensembl
chr7:128784718..128784718hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14030340
SamplesCHM1
Known GenesTSPAN33
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)nsv3061414
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer