A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696082



Internal ID15432734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123722841..123733991hg38UCSC Ensembl
Innerchr3:123441688..123452838hg19UCSC Ensembl
Innerchr3:124924378..124935528hg18UCSC Ensembl
Innerchr3:124924378..124935528hg17UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3811151
hg1911151
hg1811151
hg1711151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518633
Supporting Variants
Samples
Known GenesMYLK
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696082
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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