A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3052745



Internal ID21184779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:52627217..52627217hg38UCSC Ensembl
chrX:52656267..52656267hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg381291
hg191291
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14038185
SamplesNA12878
Known GenesSSX8
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)nsv3052745
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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