A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049048



Internal ID19138267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34500200..34579466hg38UCSC Ensembl
Innerchr14:34969406..35048672hg19UCSC Ensembl
Innerchr14:34039157..34118423hg18UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3879267
hg1979267
hg1879267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3528601
Samples
Known GenesEAPP, SNX6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049048
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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