A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001724



Internal ID16947990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:44999862..45015161hg38UCSC Ensembl
Outerchr2:45227001..45242300hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3815300
hg1915300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953780
Supporting Variants
SamplesBILGI_BIOE
Known GenesSIX2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001724
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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