A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15205700



Internal ID21344503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49083685..49083685hg38UCSC Ensembl
chrX:48941338..48941338hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3951295
Supporting Variants
SamplesHG002
Known GenesWDR45
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15205700
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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