A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449559



Internal ID22115736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148209954..148209954hg38UCSC Ensembl
chr5:147589517..147589517hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15758977
Samples
Known GenesSPINK6
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449559
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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