A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516055



Internal ID15096662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1626977..1638896hg38UCSC Ensembl
Innerchr17:1530271..1542190hg19UCSC Ensembl
Innerchr17:1477021..1488940hg18UCSC Ensembl
Innerchr17:1477021..1488940hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3811920
hg1911920
hg1811920
hg1711920
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv679125, nssv663320, nssv682489, nssv677942, nssv693875, nssv672843, nssv685892, nssv688657, nssv661514, nssv665898, nssv661466, nssv688743, nssv688068, nssv657900, nssv658380, nssv674089, nssv696884, nssv654915, nssv684253, nssv699945, nssv655446, nssv679357
Samples
Known GenesSCARF1, SLC43A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516055
Frequency
Sample Size2026
Observed Gain2
Observed Loss20
Observed Complex0
Frequencyn/a


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