A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007497



Internal ID18750028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12778589..12855993hg38UCSC Ensembl
Innerchr1:12838732..12915847hg19UCSC Ensembl
Innerchr1:12761319..12838434hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3877405
hg1977116
hg1877116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20n100
Supporting Variantsnssv3697895, nssv3476384
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)nsv1007497
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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