A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217430



Internal ID20784470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152102979..152296259hg38UCSC Ensembl
chr7:151800064..151993344hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38193281
hg19193281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6433557
Supporting Variants
Samples
Known GenesGALNT11, KMT2C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217430
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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