A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062086



Internal ID18804617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46645464hg38UCSC Ensembl
Innerchr17:44214888..44722830hg19UCSC Ensembl
Innerchr17:41570665..42078146hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38507943
hg19507943
hg18507482
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196n100
Supporting Variantsnssv3724026, nssv3556578, nssv3556574, nssv3556575, nssv3556576, nssv3724025, nssv3556577
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, 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)nsv1062086
Frequency
Sample Size29084
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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