A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3066505



Internal ID21197896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154225739..154225739hg38UCSC Ensembl
chr5:153605299..153605299hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033562
SamplesCHM1
Known GenesGALNT10
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)nsv3066505
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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