A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998536



Internal ID16944802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:82204785..82212684hg38UCSC Ensembl
Outerchr7:81834101..81842000hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg387900
hg197900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951367
Supporting Variants
SamplesBILGI_BIOE
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998536
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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