A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249464



Internal ID21305705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74098174..74164222hg38UCSC Ensembl
Outerchr12:74094137..74170794hg38UCSC Ensembl
Innerchr12:74491954..74558002hg19UCSC Ensembl
Outerchr12:74487917..74564574hg19UCSC Ensembl
Innerchr12:72778221..72844269hg18UCSC Ensembl
Outerchr12:72774184..72850841hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3876658
hg1976658
hg1876658
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169815
Supporting Variants
SamplesNGO_22
Known GenesLOC100507377
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249464
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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