A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517419



Internal ID15098026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:71888508..71924255hg38UCSC Ensembl
InnerchrX:71108358..71144105hg19UCSC Ensembl
InnerchrX:71025083..71060830hg18UCSC Ensembl
InnerchrX:70891379..70927126hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3835748
hg1935748
hg1835748
hg1735748
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv684178, nssv678286, nssv682509, nssv690058, nssv651963, nssv659347
Samples
Known GenesNHSL2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517419
Frequency
Sample Size2026
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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