A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315719



Internal ID20848791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69883301..69888600hg38UCSC Ensembl
chr1:70348984..70354283hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg385300
hg195300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204336
Samples
Known GenesLRRC7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315719
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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