A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3066537



Internal ID21197914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65172200..65172200hg38UCSC Ensembl
chr5:64468027..64468027hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381660
hg191660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033588
SamplesCHM1
Known GenesADAMTS6
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)nsv3066537
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