A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144893



Internal ID18913529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:26172831..26173131hg38UCSC Ensembl
Outerchr2:26395700..26396000hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981497
SamplesKWS1
Known GenesGAREML
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144893
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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