A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076104



Internal ID18970433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11691442..11691943hg38UCSC Ensembl
chr1:11751499..11752000hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766681
SamplesKWP1
Known GenesDRAXIN, MAD2L2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076104
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