A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4438799



Internal ID22104976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78061615..78061731hg38UCSC Ensembl
chr1:78527299..78527415hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767637
Samples
Known GenesGIPC2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4438799
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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