A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051110



Internal ID21183161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101509191..101509191hg38UCSC Ensembl
chr8:102521419..102521419hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14022322
SamplesNA12878
Known GenesGRHL2
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)nsv3051110
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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