A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv788642



Internal ID16082598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11873572..11877118hg38UCSC Ensembl
Innerchr12:12026506..12030052hg19UCSC Ensembl
Innerchr12:11917773..11921319hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg383547
hg193547
hg183547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557580
Supporting Variants
Samples
Known GenesETV6, RNU6-19P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv788642
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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