A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078027



Internal ID18972829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101038318..101043719hg38UCSC Ensembl
chr7:100681599..100687000hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385402
hg195402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763833
SamplesKWP1
Known GenesMUC17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078027
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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