A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004963



Internal ID18747494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12778589..12853295hg38UCSC Ensembl
Innerchr1:12838732..12913148hg19UCSC Ensembl
Innerchr1:12761319..12835735hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3874707
hg1974417
hg1874417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20n100
Supporting Variantsnssv3697894, nssv3482386, nssv3473824, nssv3697893
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)nsv1004963
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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