A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17437370



Internal ID22495240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119471365..121073821hg38UCSC Ensembl
chrX:118605328..120207675hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg381602457
hg191602348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887334
Supporting Variants
Samples
Known GenesAKAP14, ATP1B4, C1GALT1C1, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CUL4B, CXorf56, GLUD2, LAMP2, MCTS1, MIR766, NDUFA1, NKAP, NKAPP1, NKRF, RHOXF1, RHOXF2, RHOXF2B, RNF113A, RPL39, SEPT6, SLC25A5, SNORA69, SOWAHD, TMEM255A, UBE2A, UPF3B, ZBTB33
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17437370
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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