A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3055990



Internal ID21187914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1668928..1669224hg38UCSC Ensembl
chrX:1787821..1788117hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14030942
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)nsv3055990
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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