A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15759415



Internal ID22093895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78448101..78448101hg38UCSC Ensembl
chr5:77743925..77743925hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4448444
Supporting Variants
Samples
Known GenesSCAMP1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15759415
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer