A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3061601



Internal ID21193227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:22346956..22346956hg38UCSC Ensembl
chrX:22365073..22365073hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14032435
SamplesCHM1
Known GenesLOC100873065
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)nsv3061601
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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