A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002511



Internal ID18745043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179108779..179120707hg38UCSC Ensembl
Innerchr1:179077914..179089842hg19UCSC Ensembl
Innerchr1:177344537..177356465hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3811929
hg1911929
hg1811929
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3501539
Samples
Known GenesABL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002511
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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