A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075040



Internal ID18969999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82443683..82444084hg38UCSC Ensembl
chr7:82072999..82073400hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772797
SamplesKWP1
Known GenesCACNA2D1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075040
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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