A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048134



Internal ID18790665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46169941..46278156hg38UCSC Ensembl
Innerchr10:47541177..47649392hg19UCSC Ensembl
Innerchr10:47011183..47119398hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38108216
hg19108216
hg18108216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv830n100
Supporting Variantsnssv3522554, nssv3503049
Samples
Known GenesANTXRLP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048134
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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