A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522349



Internal ID15449642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28135863..28158043hg38UCSC Ensembl
Innerchr17:26462889..26485069hg19UCSC Ensembl
Innerchr17:23487016..23509196hg18UCSC Ensembl
Innerchr17:23487016..23509196hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3822181
hg1922181
hg1822181
hg1722181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695129
Samples
Known GenesNLK
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522349
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