A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078009



Internal ID19321415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2314764..2316665hg38UCSC Ensembl
chr7:2354399..2356300hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765886
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078009
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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