A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046997



Internal ID21179043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7274362..7274362hg38UCSC Ensembl
chr6:7274595..7274595hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14027475
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)nsv3046997
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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