A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14022213



Internal ID21172515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:109109980..109114180hg38UCSC Ensembl
chrX:108353210..108357410hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg384201
hg194201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3051516
Supporting Variants
SamplesNA12878
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)nssv14022213
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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