A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516757



Internal ID8411032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39625596..39678288hg38UCSC Ensembl
Innerchr17:37781849..37834541hg19UCSC Ensembl
Innerchr17:35035375..35088067hg18UCSC Ensembl
Innerchr17:35035375..35088067hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3852693
hg1952693
hg1852693
hg1752693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv688658, nssv654953, nssv670648, nssv673307, nssv676856, nssv656800, nssv691478, nssv674678, nssv671519, nssv693494
Samples
Known GenesPGAP3, PNMT, PPP1R1B, STARD3, TCAP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516757
Frequency
Sample Size2026
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer