A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000920



Internal ID18743451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12797714..12954384hg38UCSC Ensembl
Innerchr1:12857863..13015495hg19UCSC Ensembl
Innerchr1:12780450..12938082hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38156671
hg19157633
hg18157633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21n100
Supporting Variantsnssv3698023, nssv3481932
Samples
Known GenesHNRNPCL1, LOC649330, 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)nsv1000920
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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