A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv648n140



Internal ID22811585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8449528..8449838hg38UCSC Ensembl
chr19:8514412..8514722hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3057289, nsv3048579
SamplesCHM1, NA12878
Known GenesHNRNPM
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)dgv648n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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