A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557577



Internal ID16344986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11872429..11877118hg38UCSC Ensembl
Innerchr12:12025363..12030052hg19UCSC Ensembl
Innerchr12:11916630..11921319hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg384690
hg194690
hg184690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2384n54
Supporting Variantsnssv788311
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)nsv557577
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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