A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv734942



Internal ID15682212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:205006607..205072337hg38UCSC Ensembl
Innerchr1:204975735..205041465hg19UCSC Ensembl
Innerchr1:203242358..203308088hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3865731
hg1965731
hg1865731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549041
Supporting Variants
Samples
Known GenesCNTN2, NFASC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv734942
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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