A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv710077



Internal ID15657347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12800601..12951631hg38UCSC Ensembl
Innerchr1:12860749..13011457hg19UCSC Ensembl
Innerchr1:12783336..12934044hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38151031
hg19150709
hg18150709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545472
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv710077
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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