A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317043



Internal ID20850126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54053096..54054151hg38UCSC Ensembl
chr1:54518769..54519824hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18061530
Samples
Known GenesMIR4781, TCEANC2, TMEM59
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317043
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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