A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053444



Internal ID21185447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:85088066..85088123hg38UCSC Ensembl
chrX:84343072..84343129hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14017444
SamplesNA12878
Known GenesAPOOL
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)nsv3053444
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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