A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128873



Internal ID19251695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:127684557..127688657hg38UCSC Ensembl
Outerchr3:127403400..127407500hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961542
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128873
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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