A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070498



Internal ID18971291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1121679..1122596hg38UCSC Ensembl
chr12:1230845..1231762hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38918
hg19918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767739
SamplesKWP1
Known GenesERC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070498
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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