A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060744



Internal ID21192413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100255818..100257780hg38UCSC Ensembl
chrX:99510816..99512778hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg381963
hg191963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14030260
SamplesCHM1
Known Genes
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)nsv3060744
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