A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3059720



Internal ID21191418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50155816..50155816hg38UCSC Ensembl
chr7:50195412..50195412hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14028489
SamplesCHM1
Known GenesC7orf72
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)nsv3059720
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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