A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000590



Internal ID18743121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25269444..25359341hg38UCSC Ensembl
Innerchr1:25595935..25685832hg19UCSC Ensembl
Innerchr1:25468522..25558419hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3889898
hg1989898
hg1889898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv140n100
Supporting Variantsnssv3700343, nssv3466699, nssv3472189, nssv3464734, nssv3700342, nssv3471744, nssv3478017
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)nsv1000590
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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