A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14033647



Internal ID21165030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:32031870..32031870hg38UCSC Ensembl
chr10:32320798..32320798hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3064235
Supporting Variants
SamplesNA12878
Known GenesKIF5B
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)nssv14033647
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