A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998813



Internal ID18811663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25273802..25351859hg38UCSC Ensembl
Innerchr1:25600293..25678350hg19UCSC Ensembl
Innerchr1:25472880..25550937hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3878058
hg1978058
hg1878058
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv140n100
Supporting Variantsnssv3479442
Samples
Known GenesRHD, TMEM50A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998813
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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