A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001452



Internal ID19090669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76226372..76258967hg38UCSC Ensembl
Innerchr1:76692057..76724652hg19UCSC Ensembl
Innerchr1:76464645..76497240hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3832596
hg1932596
hg1832596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv197n100
Supporting Variantsnssv3466893
Samples
Known GenesST6GALNAC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001452
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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