A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv796454



Internal ID16090410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57634888..57671665hg38UCSC Ensembl
Innerchr12:58028671..58065448hg19UCSC Ensembl
Innerchr12:56314938..56351715hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3836778
hg1936778
hg1836778
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559044
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv796454
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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