A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012311



Internal ID18754844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25269444..25346651hg38UCSC Ensembl
Innerchr1:25595935..25673142hg19UCSC Ensembl
Innerchr1:25468522..25545729hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3877208
hg1977208
hg1877208
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv137n100
Supporting Variantsnssv3463431, nssv3466922, nssv3700329, nssv3466698, nssv3700330, nssv3468529, nssv3473799, nssv3463021, nssv3481001, nssv3476977, nssv3467560, nssv3478889, nssv3471341, nssv3470928, nssv3700327, nssv3700326, nssv3478859, nssv3464673, nssv3700328, nssv3480417, nssv3480771, nssv3466824, nssv3700331, nssv3473184, nssv3481630
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)nsv1012311
Frequency
Sample Size29084
Observed Gain20
Observed Loss5
Observed Complex0
Frequencyn/a


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