A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078031



Internal ID18977524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152401714..152416715hg38UCSC Ensembl
chr7:152098799..152113800hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3815002
hg1915002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768150
SamplesKWP1
Known GenesKMT2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078031
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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