A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074306



Internal ID18977340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71021572..71042973hg38UCSC Ensembl
chr5:70317399..70338800hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3821402
hg1921402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769606
SamplesKWP1
Known GenesGTF2H2, NAIP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074306
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