A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv899091



Internal ID6306102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52845931..52865222hg19UCSC Ensembl
Outerchr12:52843794..52866060hg19UCSC Ensembl
Innerchr12:51132198..51151489hg18UCSC Ensembl
Outerchr12:51130061..51152327hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1506828
SamplesSP54407
Known GenesKRT6B, KRT6C
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv899091
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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