A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062009



Internal ID19151228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46494937hg38UCSC Ensembl
Innerchr17:44214888..44572303hg19UCSC Ensembl
Innerchr17:41570665..41927619hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38357416
hg19357416
hg18356955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3189n100
Supporting Variantsnssv3556555, nssv3724016, nssv3724017, nssv3556542, nssv3556547, nssv3556553, nssv3556546, nssv3556556, nssv3556551, nssv3556548, nssv3556552, nssv3556543, nssv3556545, nssv3556554, nssv3556550, nssv3556549, nssv3556544
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062009
Frequency
Sample Size11257
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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