A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762180



Internal ID18964037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231037484..231038085hg38UCSC Ensembl
chr2:231902199..231902800hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1071652
Supporting Variants
SamplesKWP1
Known GenesC2orf72
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762180
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