A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065774



Internal ID21197204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:99827977..99827977hg38UCSC Ensembl
chr10:101587734..101587734hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034749
SamplesCHM1
Known GenesABCC2
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)nsv3065774
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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