A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5908962



Internal ID22684172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48642233..48647630hg38UCSC Ensembl
chr7:48681829..48687226hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg385398
hg195398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440059
Samples
Known GenesABCA13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5908962
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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