A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938440



Internal ID22713820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44546227..44546889hg38UCSC Ensembl
chrX:49731206..49731798hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38663
hg19593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397991
Samples
Known GenesCLCN5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938440
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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