A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557226



Internal ID16344635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6138393..6150735hg38UCSC Ensembl
Innerchr12:6247559..6259901hg19UCSC Ensembl
Innerchr12:6117820..6130162hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3812343
hg1912343
hg1812343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2313n54
Supporting Variantsnssv787125, nssv787123, nssv787122, nssv787121, nssv787124
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557226
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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