A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15768248



Internal ID22102723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52002604..52002604hg38UCSC Ensembl
chr13:52576740..52576740hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4445143
Supporting Variants
Samples
Known GenesATP7B
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15768248
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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