A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6601253



Internal ID20974324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:54583600..55152153hg38UCSC Ensembl
chr7:54651293..55219846hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38568554
hg19568554
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18226906
Samples
Known GenesEGFR, SEC61G
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6601253
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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