A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1082575



Internal ID15935761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31550984..31551997hg38UCSC Ensembl
Innerchr7:31590598..31591611hg19UCSC Ensembl
Innerchr7:31557123..31558136hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381014
hg191014
hg181014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv606573
Supporting Variants
Samples
Known GenesCCDC129
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1082575
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