A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3724968



Internal ID18676563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46427863..46707604hg38UCSC Ensembl
Innerchr17:44505229..44784970hg19UCSC Ensembl
Innerchr17:41860664..42140153hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38279742
hg19279742
hg18279490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1067281
Supporting Variants
Samples
Known GenesARL17A, ARL17B, 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)nssv3724968
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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