A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070100



Internal ID18976197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27281067..27281401hg38UCSC Ensembl
chr12:27434000..27434334hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768814
SamplesKWP1
Known GenesSTK38L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070100
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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