A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047864



Internal ID21179910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:25686249..25687234hg38UCSC Ensembl
chr15:25931396..25932381hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg38986
hg19986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14024471
SamplesNA12878
Known GenesATP10A
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)nsv3047864
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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