A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342115



Internal ID20999668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86545559..86549460hg38UCSC Ensembl
chr2:86772682..86776583hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg383902
hg193902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18091180
Samples
Known GenesCHMP3, RNF103-CHMP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342115
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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