A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069668



Internal ID18974620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52047961..52048398hg38UCSC Ensembl
chr12:52441745..52442182hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764515
SamplesKWP1
Known GenesNR4A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069668
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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