A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060948



Internal ID21192613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52696933..52696933hg38UCSC Ensembl
chr3:52730949..52730949hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026777
SamplesCHM1
Known GenesGLT8D1
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)nsv3060948
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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