A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6425500



Internal ID21083053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129505487..129513203hg38UCSC Ensembl
chr7:129145328..129153044hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg387717
hg197717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18234568
Samples
Known GenesSMKR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6425500
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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