A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998530



Internal ID18811380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12779421..12954384hg38UCSC Ensembl
Innerchr1:12839564..13015495hg19UCSC Ensembl
Innerchr1:12762151..12938082hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38174964
hg19175932
hg18175932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21n100
Supporting Variantsnssv3468454, nssv3471668
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF6, 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)nsv998530
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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