A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070524



Internal ID19323052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33123437..33136632hg38UCSC Ensembl
chr12:33276371..33289566hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3813196
hg1913196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769273
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070524
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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