A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005598



Internal ID18748129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:24981181..25380521hg38UCSC Ensembl
Innerchr1:25307672..25707012hg19UCSC Ensembl
Innerchr1:25180259..25579599hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38399341
hg19399341
hg18399341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv132n100
Supporting Variantsnssv3473817
Samples
Known GenesC1orf63, RHCE, RHD, SYF2, TMEM50A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005598
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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