A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517710



Internal ID15098317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:98487833..98506335hg38UCSC Ensembl
Innerchr10:100247590..100266092hg19UCSC Ensembl
Innerchr10:100237580..100256082hg18UCSC Ensembl
Innerchr10:100237580..100256082hg17UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg3818503
hg1918503
hg1818503
hg1718503
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv652919, nssv705513, nssv690232, nssv703595, nssv705767, nssv668655
Samples
Known GenesHPSE2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517710
Frequency
Sample Size2026
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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