A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057306



Internal ID18799837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81154954..81207813hg38UCSC Ensembl
Innerchr17:79128754..79181613hg19UCSC Ensembl
Innerchr17:76743349..76796208hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3852860
hg1952860
hg1852860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567868
Samples
Known GenesAATK, AATK-AS1, AZI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057306
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