A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329113



Internal ID20862264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183400834..183404155hg38UCSC Ensembl
chr1:183369969..183373290hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg383322
hg193322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18054699
Samples
Known GenesNMNAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6329113
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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