A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055646



Internal ID18798177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46331296hg38UCSC Ensembl
Innerchr17:44165803..44408662hg19UCSC Ensembl
Innerchr17:41521621..41764423hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38242860
hg19242860
hg18242803
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3184n100
Supporting Variantsnssv3720491, nssv3720490, nssv3548360, nssv3720485, nssv3548359, nssv3720488, nssv3548355, nssv3548353, nssv3548354, nssv3720487, nssv3548363, nssv3548357, nssv3720489, nssv3720484, nssv3548362, nssv3720483, nssv3548356, nssv3548358, nssv3548361, nssv3720486
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055646
Frequency
Sample Size29084
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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