A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065727



Internal ID21197157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201211012..201211012hg38UCSC Ensembl
chr1:201180140..201180140hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14035785
SamplesCHM1
Known GenesIGFN1
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)nsv3065727
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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