A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3548381



Internal ID18499976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46645464hg38UCSC Ensembl
Innerchr17:44165803..44722830hg19UCSC Ensembl
Innerchr17:41521621..42078146hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38557028
hg19557028
hg18556526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058972
Supporting Variants
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)nssv3548381
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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