A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334947



Internal ID20868137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173863745..173865277hg38UCSC Ensembl
chr1:173832883..173834415hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381533
hg191533
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201037
Samples
Known GenesGAS5, GAS5-AS1, SNORD47, SNORD80, SNORD81
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334947
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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