A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078951



Internal ID19315825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126260420..126260492hg38UCSC Ensembl
Outerchr3:125979263..125979335hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762347
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078951
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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