A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065038



Internal ID21196480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6318735..6318735hg38UCSC Ensembl
chr19:6318746..6318746hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14035127
SamplesNA12878
Known GenesACER1
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)nsv3065038
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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