A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056769



Internal ID21188649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182451720..182451720hg38UCSC Ensembl
chr1:182420855..182420855hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14024390
SamplesCHM1
Known GenesRGSL1
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)nsv3056769
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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