A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169454



Internal ID21313937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117611519..117613722hg38UCSC Ensembl
Outerchr12:117611412..117613773hg38UCSC Ensembl
Innerchr12:118049324..118051527hg19UCSC Ensembl
Outerchr12:118049217..118051578hg19UCSC Ensembl
Innerchr12:116533707..116535910hg18UCSC Ensembl
Outerchr12:116533600..116535961hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382362
hg192362
hg182362
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14244341, nssv14241892
SamplesNGO_31, NGO_1
Known GenesKSR2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169454
Frequency
Sample Size93
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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