A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4442541



Internal ID22108724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:41775002..41775002hg38UCSC Ensembl
chrX:41634255..41634255hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg381735
hg191735
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15765233
Samples
Known GenesCASK
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4442541
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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