A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071021



Internal ID18975766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26358145..26358416hg38UCSC Ensembl
chr12:26511078..26511349hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763841
SamplesKWP1
Known GenesITPR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071021
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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