A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1639n140



Internal ID22812576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:9730208..9730379hg38UCSC Ensembl
chrX:9698248..9698419hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3060742, nsv3056026
SamplesCHM1, NA12878
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)dgv1639n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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