A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1668n140



Internal ID22812605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101900286..101900341hg38UCSC Ensembl
chrX:101155259..101155314hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3060703, nsv3063919
SamplesCHM1, NA12878
Known GenesZMAT1
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)dgv1668n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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