A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132485



Internal ID19256482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46355561..46358761hg38UCSC Ensembl
Outerchr2:46582700..46585900hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383201
hg193201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987265
SamplesKWS1
Known GenesEPAS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132485
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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