A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041996



Internal ID19131215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:51970669..52007365hg38UCSC Ensembl
Innerchr13:52544805..52581501hg19UCSC Ensembl
Innerchr13:51442806..51479502hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3836697
hg1936697
hg1836697
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523465
Samples
Known GenesATP7B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041996
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