A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010484



Internal ID19099701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130001889..130067873hg38UCSC Ensembl
Innerchr2:130759462..130825446hg19UCSC Ensembl
Innerchr2:130475932..130541916hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3865985
hg1965985
hg1865985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4071n100
Supporting Variantsnssv3580807
Samples
Known GenesFAR2P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010484
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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