A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15767005



Internal ID22101476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189841823..189841823hg38UCSC Ensembl
chr2:190706549..190706549hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4449544
Supporting Variants
Samples
Known GenesPMS1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15767005
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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