A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056557



Internal ID21188441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77520164..77520164hg38UCSC Ensembl
chr10:79279922..79279922hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14030854
SamplesNA12878
Known GenesKCNMA1
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)nsv3056557
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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