A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009990



Internal ID18752521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:8996436..9054032hg38UCSC Ensembl
Innerchr1:9056495..9114091hg19UCSC Ensembl
Innerchr1:8979082..9036678hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3857597
hg1957597
hg1857597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv15n100
Supporting Variantsnssv3468957
Samples
Known GenesSLC2A5, SLC2A7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009990
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