A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6335907



Internal ID20993460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232346501..232453200hg38UCSC Ensembl
chr2:233211211..233317910hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38106700
hg19106700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4315n223
Supporting Variantsnssv18206230
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6335907
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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