A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701320



Internal ID15091286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55683135..55730548hg38UCSC Ensembl
Innerchr12:56076919..56124332hg19UCSC Ensembl
Innerchr12:54363186..54410599hg18UCSC Ensembl
Innerchr12:54363186..54410599hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3847414
hg1947414
hg1847414
hg1747414
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525231
Supporting Variants
Samples
Known GenesBLOC1S1, BLOC1S1-RDH5, CD63, ITGA7, METTL7B, RDH5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701320
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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