A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009514



Internal ID18752045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127541503..127663080hg38UCSC Ensembl
Innerchr2:128299079..128420654hg19UCSC Ensembl
Innerchr2:128015549..128137124hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38121578
hg19121576
hg18121576
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4068n100
Supporting Variantsnssv3580788, nssv3580789, nssv3580787
Samples
Known GenesGPR17, LIMS2, MYO7B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009514
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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