A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704955



Internal ID15094921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3459775..3507608hg38UCSC Ensembl
Innerchr17:3363069..3410902hg19UCSC Ensembl
Innerchr17:3309819..3357652hg18UCSC Ensembl
Innerchr17:3309819..3357652hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3847834
hg1947834
hg1847834
hg1747834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528368
Supporting Variants
Samples
Known GenesASPA, SPATA22
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704955
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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