A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011077



Internal ID18753611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25269444..25351886hg38UCSC Ensembl
Innerchr1:25595935..25678377hg19UCSC Ensembl
Innerchr1:25468522..25550964hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3882443
hg1982443
hg1882443
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv137n100
Supporting Variantsnssv3700334, nssv3475470
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)nsv1011077
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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