A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3765053



Internal ID19312829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234951755..234952456hg38UCSC Ensembl
chr2:235860399..235861100hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1072081
Supporting Variants
SamplesKWP1
Known GenesSH3BP4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3765053
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