A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070503



Internal ID18973769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4910489..4910542hg38UCSC Ensembl
chr12:5019655..5019708hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763327
SamplesKWP1
Known GenesKCNA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070503
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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