A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073675



Internal ID19324742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125374755..125375256hg38UCSC Ensembl
chr3:125093599..125094100hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762929
SamplesKWP1
Known GenesZNF148
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073675
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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