A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346748



Internal ID21004301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88760401..88870800hg38UCSC Ensembl
chr2:89059918..89170316hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38110400
hg19110399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3975n223
Supporting Variantsnssv18207185
Samples
Known GenesANKRD36BP2, MIR4436A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346748
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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