A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070099



Internal ID18978757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23642833..23643100hg38UCSC Ensembl
chr12:23795767..23796034hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770854
SamplesKWP1
Known GenesSOX5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070099
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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