A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064692



Internal ID21196161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:32154882..32154882hg38UCSC Ensembl
chr15:32447083..32447083hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14036305
SamplesNA12878
Known GenesCHRNA7
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)nsv3064692
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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