A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138868



Internal ID19260319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:176499343..176499397hg38UCSC Ensembl
Outerchr2:177364071..177364125hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955596, nssv3991471
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138868
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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