A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053709



Internal ID21185710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:80911927..80911927hg38UCSC Ensembl
chr15:81204268..81204268hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031333
SamplesNA12878
Known GenesKIAA1199
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)nsv3053709
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