A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071387



Internal ID19319750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44218531..44220132hg38UCSC Ensembl
chr17:42295899..42297500hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764219
SamplesKWP1
Known GenesUBTF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071387
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