A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3052706



Internal ID21184740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:146382751..146382751hg38UCSC Ensembl
chrX:145464269..145464269hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14035913
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)nsv3052706
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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