A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516757



Internal ID6014610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37781849..37834541hg19UCSC Ensembl
Innerchr17:35035375..35088067hg18UCSC Ensembl
Innerchr17:35035375..35088067hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv688658, nssv654953, nssv670648, nssv673307, nssv676856, nssv656800, nssv691478, nssv674678, nssv671519, nssv693494
Samples
Known GenesPGAP3, PNMT, PPP1R1B, STARD3, TCAP
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv516757
Frequency
Sample Size2026
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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