A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010457



Internal ID18752988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12785708..12855993hg38UCSC Ensembl
Innerchr1:12845851..12915847hg19UCSC Ensembl
Innerchr1:12768438..12838434hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3870286
hg1969997
hg1869997
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27n100
Supporting Variantsnssv3479226, nssv3697931, nssv3467131, nssv3697927, nssv3697935, nssv3697928, nssv3697929, nssv3480235, nssv3697930, nssv3697934, nssv3469426, nssv3697925, nssv3473378, nssv3476801, nssv3697926, nssv3465020, nssv3697933, nssv3697932, nssv3472135
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010457
Frequency
Sample Size29084
Observed Gain1
Observed Loss18
Observed Complex0
Frequencyn/a


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