A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522552



Internal ID15103159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4144787..4182539hg38UCSC Ensembl
Innerchr17:4048081..4085834hg19UCSC Ensembl
Innerchr17:3994830..4032583hg18UCSC Ensembl
Innerchr17:3994830..4032583hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3837753
hg1937754
hg1837754
hg1737754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv173n21
Supporting Variantsnssv705933
Samples
Known GenesANKFY1, CYB5D2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522552
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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