A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047774



Internal ID21179820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136074475..136074475hg38UCSC Ensembl
chr9:138966321..138966321hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14025358
SamplesNA12878
Known GenesNACC2
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)nsv3047774
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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