A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1083234



Internal ID15589734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44223857..44227425hg38UCSC Ensembl
Innerchr7:44263456..44267024hg19UCSC Ensembl
Innerchr7:44229981..44233549hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg383569
hg193569
hg183569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv606754
Supporting Variants
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1083234
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