A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070509



Internal ID19321422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10589054..10589142hg38UCSC Ensembl
chr12:10741653..10741741hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771348
SamplesKWP1
Known GenesKLRAP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070509
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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