A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071623



Internal ID18977235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133266627..133267128hg38UCSC Ensembl
chr2:134024199..134024700hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770078
SamplesKWP1
Known GenesMIR7853, NCKAP5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071623
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