A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340963



Internal ID20998516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197298595..197303019hg38UCSC Ensembl
chr2:198163319..198167743hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384425
hg194425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18084219
Samples
Known GenesANKRD44
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340963
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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