A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076630



Internal ID19318754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143845306..143852007hg38UCSC Ensembl
chr7:143542399..143549100hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg386702
hg196702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772083
SamplesKWP1
Known GenesFAM115A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076630
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer