A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341227



Internal ID20998780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44731581..44769009hg38UCSC Ensembl
chr2:44958720..44996148hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3837429
hg1937429
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209800
Samples
Known GenesCAMKMT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341227
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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