A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078202



Internal ID18973578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132316931..132317018hg38UCSC Ensembl
Outerchr12:132893517..132893604hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771468
SamplesKWP1
Known GenesGALNT9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078202
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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