A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556943



Internal ID15997666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:997617..1111522hg38UCSC Ensembl
Innerchr12:1106783..1220688hg19UCSC Ensembl
Innerchr12:977044..1090949hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38113906
hg19113906
hg18113906
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786224
Samples
Known GenesERC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556943
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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