A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556946



Internal ID15997669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1256496..1257097hg38UCSC Ensembl
Innerchr12:1365662..1366263hg19UCSC Ensembl
Innerchr12:1235923..1236524hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38602
hg19602
hg18602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2261n54
Supporting Variantsnssv786233, nssv786231, nssv786232, nssv786230, nssv786234
Samples
Known GenesERC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556946
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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