A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322493



Internal ID20855606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168231902..168410441hg38UCSC Ensembl
chr1:168201140..168379679hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38178540
hg19178540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201537
Samples
Known GenesANKRD36BP1, LOC100505918, MIR557, SFT2D2, TBX19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322493
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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