A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339667



Internal ID20997220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121267455..121272833hg38UCSC Ensembl
chr2:122025031..122030409hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg385379
hg195379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18075948
Samples
Known GenesTFCP2L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339667
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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