A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3772766



Internal ID18966687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125186253..125186754hg38UCSC Ensembl
chr12:125670799..125671300hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1070140
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3772766
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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