A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051072



Internal ID21183123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5930794..5930794hg38UCSC Ensembl
chr7:5970425..5970425hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020999
SamplesNA12878
Known GenesRSPH10B, RSPH10B2
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)nsv3051072
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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