A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000794



Internal ID19090011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25269444..25354280hg38UCSC Ensembl
Innerchr1:25595935..25680771hg19UCSC Ensembl
Innerchr1:25468522..25553358hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3884837
hg1984837
hg1884837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv140n100
Supporting Variantsnssv3480775, nssv3473773, nssv3700335, nssv3472278, nssv3700336, nssv3700340, nssv3476291, nssv3700339, nssv3700338, nssv3465788, nssv3700341, nssv3700337, nssv3468135
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)nsv1000794
Frequency
Sample Size11257
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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