A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056684



Internal ID21188568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128464670..128464865hg38UCSC Ensembl
chr9:131226949..131227144hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1613n140
Supporting Variantsnssv14031907
SamplesCHM1
Known GenesODF2
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)nsv3056684
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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