A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949941



Internal ID17298815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128407547..128409246hg38UCSC Ensembl
Outerchr7:128047601..128049300hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998582
SamplesBILGI_BIOE
Known GenesIMPDH1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949941
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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