A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443467



Internal ID22109650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119647970..119647970hg38UCSC Ensembl
chrX:118781933..118781933hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762452
Samples
Known GenesSEPT6
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SUBSDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443467
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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