A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074343



Internal ID18973774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168291694..168292895hg38UCSC Ensembl
chr5:167718699..167719900hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772148
SamplesKWP1
Known GenesWWC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074343
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