A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250091



Internal ID21312613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172131113..172165686hg38UCSC Ensembl
Outerchr2:172129363..172172091hg38UCSC Ensembl
Innerchr2:172995841..173030414hg19UCSC Ensembl
Outerchr2:172994091..173036819hg19UCSC Ensembl
Innerchr2:172704087..172738660hg18UCSC Ensembl
Outerchr2:172702337..172745065hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3842729
hg1942729
hg1842729
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169950
Supporting Variants
SamplesSNI_3
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250091
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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