A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701061



Internal ID15091027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6455044..6492577hg38UCSC Ensembl
Innerchr12:6564210..6601743hg19UCSC Ensembl
Innerchr12:6434471..6472004hg18UCSC Ensembl
Innerchr12:6434471..6472004hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3837534
hg1937534
hg1837534
hg1737534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525022
Supporting Variants
Samples
Known GenesMRPL51, TAPBPL, VAMP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701061
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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