A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060847



Internal ID18803378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46351303..46674922hg38UCSC Ensembl
Innerchr17:44428669..44752288hg19UCSC Ensembl
Innerchr17:41784425..42107467hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38323620
hg19323620
hg18323043
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3254n100
Supporting Variantsnssv3723737, nssv3723730, nssv3568373, nssv3723745, nssv3723734, nssv3723751, nssv3568368, nssv3568385, nssv3723752, nssv3723738, nssv3568372, nssv3723743, nssv3568367, nssv3568354, nssv3723739, nssv3568371, nssv3568381, nssv3723744, nssv3568393, nssv3723733, nssv3568358, nssv3568382, nssv3568356, nssv3568347, nssv3568357, nssv3568391, nssv3568366, nssv3568346, nssv3568375, nssv3568394, nssv3568384, nssv3568377, nssv3723748, nssv3568369, nssv3723746, nssv3568378, nssv3568348, nssv3568365, nssv3568380, nssv3568386, nssv3568361, nssv3723736, nssv3723735, nssv3568353, nssv3568390, nssv3568370, nssv3723758, nssv3723755, nssv3723732, nssv3568349, nssv3568392, nssv3723754, nssv3723742, nssv3568388, nssv3723759, nssv3568364, nssv3568383, nssv3568355, nssv3568363, nssv3568351, nssv3568360, nssv3723731, nssv3723756, nssv3568362, nssv3568359, nssv3568352, nssv3568379, nssv3568350, nssv3723753, nssv3723749, nssv3568374, nssv3723741, nssv3568387, nssv3723747, nssv3723750, nssv3723760, nssv3723757, nssv3568389, nssv3568376, nssv3723740
Samples
Known GenesARL17A, ARL17B, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060847
Frequency
Sample Size29084
Observed Gain49
Observed Loss31
Observed Complex0
Frequencyn/a


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