A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003941



Internal ID19093158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129792678..130059775hg38UCSC Ensembl
Innerchr2:130550251..130817348hg19UCSC Ensembl
Innerchr2:130266721..130533818hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38267098
hg19267098
hg18267098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580805
Samples
Known GenesFAR2P1, LOC389033, RAB6C, RAB6C-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003941
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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