A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051540



Internal ID21183592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1514412..1514490hg38UCSC Ensembl
chrX:1633305..1633383hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14025539
SamplesNA12878
Known GenesP2RY8
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)nsv3051540
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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