A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3061585



Internal ID21193218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107910839..107910839hg38UCSC Ensembl
chrX:107154069..107154069hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020446
SamplesCHM1
Known GenesMID2
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)nsv3061585
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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