A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4439574



Internal ID22105752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51989881..51989881hg38UCSC Ensembl
chr6:51854679..51854679hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761162
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4439574
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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