A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14018861



Internal ID21170252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:9730209..9730379hg38UCSC Ensembl
chrX:9698249..9698419hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3056026
Supporting Variants
SamplesNA12878
Known GenesGPR143
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)nssv14018861
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