A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123439



Internal ID19264404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232836271..232836331hg38UCSC Ensembl
Outerchr2:233700981..233701041hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956388, nssv3973670
SamplesKWS2, KWS1
Known GenesGIGYF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123439
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer