A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997182



Internal ID17290134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:100517045..100523544hg38UCSC Ensembl
Outerchr1:100982601..100989100hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950522
Supporting Variants
SamplesBILGI_BIOE
Known GenesCDC14A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997182
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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