A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041677



Internal ID18784208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122506931..122629578hg38UCSC Ensembl
Innerchr12:122991478..123114125hg19UCSC Ensembl
Innerchr12:121557431..121680078hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38122648
hg19122648
hg18122648
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526094
Samples
Known GenesKNTC1, RSRC2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041677
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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