A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318838



Internal ID20851930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7840382..7854019hg38UCSC Ensembl
chr1:7900442..7914079hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3813638
hg1913638
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204463
Samples
Known GenesPER3, UTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318838
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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