A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076782



Internal ID19323925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:50872658..50872749hg38UCSC Ensembl
Outerchr12:51266441..51266532hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764768
SamplesKWP1
Known GenesTMPRSS12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076782
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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