A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009419



Internal ID19098637
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 StatusM
Merged Variantsdgv4071n100
Supporting Variantsnssv3580806
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)nsv1009419
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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