A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523598



Internal ID15450891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:50448593..50568693hg38UCSC Ensembl
InnerchrX:50191591..50311693hg19UCSC Ensembl
InnerchrX:50208331..50328433hg18UCSC Ensembl
InnerchrX:50024627..50144729hg17UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38120101
hg19120103
hg18120103
hg17120103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699390
Samples
Known GenesDGKK
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523598
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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