A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6353714



Internal ID21011267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73605278..73676879hg38UCSC Ensembl
chr2:73832405..73904006hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3871602
hg1971602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207039
Samples
Known GenesALMS1, ALMS1P, NAT8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6353714
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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