A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193905



Internal ID22344294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37438002..37498430hg38UCSC Ensembl
chr7:37477605..37538033hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3860429
hg1960429
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14332646
SamplesHG00733
Known GenesELMO1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193905
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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