A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070094



Internal ID18969703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11649565..11650766hg38UCSC Ensembl
chr12:11802499..11803700hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770658
SamplesKWP1
Known GenesETV6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070094
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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