A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064958



Internal ID18807489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28490519..28565886hg38UCSC Ensembl
Innerchr17:26817537..26892904hg19UCSC Ensembl
Innerchr17:23841664..23917031hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3875368
hg1975368
hg1875368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3720043
Samples
Known GenesFOXN1, PIGS, SLC13A2, UNC119
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064958
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