A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064670



Internal ID21196139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:100058270..100058270hg38UCSC Ensembl
chr15:100598475..100598475hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14037347
SamplesNA12878
Known GenesADAMTS17
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)nsv3064670
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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