A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998630



Internal ID16944896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152376716..152400315hg38UCSC Ensembl
Outerchr7:152073801..152097400hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3823600
hg1923600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951653
Supporting Variants
SamplesBILGI_BIOE
Known GenesKMT2C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998630
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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