A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950814



Internal ID17299688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:20212978..20221477hg38UCSC Ensembl
Outerchr7:20252601..20261100hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg388500
hg198500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997618
SamplesBILGI_BIOE
Known GenesMACC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950814
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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