A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049521



Internal ID21181570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174114345..174114345hg38UCSC Ensembl
chr5:173541348..173541348hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14038305
SamplesNA12878
Known Genes
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)nsv3049521
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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