A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17735937



Internal ID159603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:240351..1946351hg38UCSC Ensembl
chrX:157018..2065244hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381706001
hg191908227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138027
Supporting Variants
Samples
Known GenesAKAP17A, ASMT, ASMTL, ASMTL-AS1, CRLF2, CSF2RA, GTPBP6, IL3RA, LINC00685, MIR3690, MIR3690-2, P2RY8, PLCXD1, PPP2R3B, SHOX, SLC25A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17735937
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000628536


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer