A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6429611



Internal ID21087164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139703981..139964547hg38UCSC Ensembl
chr7:139404378..139664346hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38260567
hg19259969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18232597
Samples
Known GenesHIPK2, TBXAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6429611
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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