A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575405



Internal ID16016128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46588547..46703986hg38UCSC Ensembl
Innerchr17:44665913..44781352hg19UCSC Ensembl
Innerchr17:42021229..42136534hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38115440
hg19115440
hg18115306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5659n54
Supporting Variantsnssv872917
Samples
Known GenesNSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575405
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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