A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997632



Internal ID18810482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12806942..12938438hg38UCSC Ensembl
Innerchr1:12867078..12998268hg19UCSC Ensembl
Innerchr1:12789665..12920855hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38131497
hg19131191
hg18131191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21n100
Supporting Variantsnssv3480855, nssv3462986, nssv3470927, nssv3468733, nssv3698771, nssv3472190, nssv3480110, nssv3698767, nssv3468002, nssv3698769, nssv3466823, nssv3698772, nssv3481765, nssv3480802, nssv3698768, nssv3475834, nssv3698773, nssv3478079, nssv3698770, nssv3481759, nssv3475560, nssv3481903
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF7, PRAMEF8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997632
Frequency
Sample Size29084
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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