A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918443



Internal ID22693664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152385313..152385643hg38UCSC Ensembl
chr7:152082398..152082728hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445774
Samples
Known GenesKMT2C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918443
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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