A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6420216



Internal ID21077769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152019402..152252104hg38UCSC Ensembl
chr7:151716487..151949189hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38232703
hg19232703
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7185n223
Supporting Variantsnssv18218000
Samples
Known GenesGALNT11, GALNTL5, KMT2C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6420216
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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