A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517137



Internal ID15444430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175442776..175442842hg38UCSC Ensembl
Innerchr1:175411912..175411978hg19UCSC Ensembl
Innerchr1:173678535..173678601hg18UCSC Ensembl
Innerchr1:172143569..172143635hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
hg1767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662803, nssv682338, nssv683938, nssv693365, nssv692108, nssv653846, nssv656856, nssv669181, nssv688982, nssv677118, nssv661290, nssv676402, nssv657248, nssv673770
Samples
Known GenesTNR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517137
Frequency
Sample Size2026
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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