A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002505



Internal ID19091722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68570842..68655679hg38UCSC Ensembl
Innerchr4:69436560..69521397hg19UCSC Ensembl
Innerchr4:69119155..69203992hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3884838
hg1984838
hg1884838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5279n100
Supporting Variantsnssv3628968, nssv3628972, nssv3628975, nssv3628969, nssv3628970, nssv3628971, nssv3628974, nssv3628973
Samples
Known GenesUGT2B15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002505
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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