A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064713



Internal ID21196182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:72347209..72347209hg38UCSC Ensembl
chr15:72639550..72639550hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14016396
SamplesNA12878
Known GenesHEXA
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)nsv3064713
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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