A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17453748



Internal ID22511622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47637114..47637749hg38UCSC Ensembl
chrX:47496513..47497148hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38636
hg19636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870305
Supporting Variants
Samples
Known GenesELK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17453748
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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