A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3055923



Internal ID21187847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2378445..2378509hg38UCSC Ensembl
chr7:2418080..2418144hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029122
SamplesCHM1
Known GenesEIF3B
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)nsv3055923
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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