A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074089



Internal ID19321943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44082400..44083201hg38UCSC Ensembl
chr7:44121999..44122800hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772725
SamplesKWP1
Known GenesPOLM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074089
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