A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047582



Internal ID21179628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:34969306..34969306hg38UCSC Ensembl
chr7:35008918..35008918hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018309
SamplesNA12878
Known GenesDPY19L1
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)nsv3047582
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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