A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056710



Internal ID21188594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101836456..101836542hg38UCSC Ensembl
chrX:101091428..101091514hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14022978
SamplesCHM1
Known GenesNXF5
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)nsv3056710
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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