A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004597



Internal ID19093814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57189069..57234405hg38UCSC Ensembl
Innerchr4:58055235..58100571hg19UCSC Ensembl
Innerchr4:57749992..57795328hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3845337
hg1945337
hg1845337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5217n100
Supporting Variantsnssv3626496, nssv3626497, nssv3626499, nssv3626498
Samples
Known GenesIGFBP7-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004597
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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