A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580806



Internal ID18879087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129979730..130063169hg38UCSC Ensembl
Innerchr2:130737303..130820742hg19UCSC Ensembl
Innerchr2:130453773..130537212hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3883440
hg1983440
hg1883440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009419
Supporting Variants
Samples
Known GenesFAR2P1, 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)nssv3580806
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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