A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321528



Internal ID20854635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183340536..183406925hg38UCSC Ensembl
chr1:183309671..183376060hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3866390
hg1966390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18054695
Samples
Known GenesNMNAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321528
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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