A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072693



Internal ID18972157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52533383..52534084hg38UCSC Ensembl
chr3:52567399..52568100hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767379
SamplesKWP1
Known GenesNT5DC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072693
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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