A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153153



Internal ID19198968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177347371..177353472hg38UCSC Ensembl
Outerchr2:178212099..178218200hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386102
hg196102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001070
SamplesKWB1
Known GenesLOC100130691
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153153
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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