A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078424



Internal ID19319540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54488326..54489327hg38UCSC Ensembl
chr1:54953999..54955000hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768598
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078424
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