A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17164730



Internal ID21500009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:114899664..114899664hg38UCSC Ensembl
chrX:114134227..114134227hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5612301
Supporting Variants
SamplesNA19239
Known GenesHTR2C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17164730
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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