A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001669



Internal ID17294621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2749429..2752928hg38UCSC Ensembl
Outerchr2:2753201..2756700hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953377
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001669
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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