A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143961



Internal ID18912019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:151604786..151607486hg38UCSC Ensembl
Outerchr2:152461300..152464000hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg382701
hg192701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994673
SamplesKWS1
Known GenesNEB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143961
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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