A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005363



Internal ID19094580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68581715..68655679hg38UCSC Ensembl
Innerchr4:69447433..69521397hg19UCSC Ensembl
Innerchr4:69130028..69203992hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3873965
hg1973965
hg1873965
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5289n100
Supporting Variantsnssv3743968, nssv3629005, nssv3629006, nssv3629004
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)nsv1005363
Frequency
Sample Size11257
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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