A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318407



Internal ID20851499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:218088418..218368114hg38UCSC Ensembl
chr1:218261760..218541456hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38279697
hg19279697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200591
Samples
Known GenesLOC728463, RRP15, TGFB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318407
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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