A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559436



Internal ID16346845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:78089299..78121013hg38UCSC Ensembl
Innerchr12:78483079..78514793hg19UCSC Ensembl
Innerchr12:77007210..77038924hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3831715
hg1931715
hg1831715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2722n54
Supporting Variantsnssv1175883
SamplesNINDS_91
Known GenesNAV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559436
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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