A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008630



Internal ID19097847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57185470..57230708hg38UCSC Ensembl
Innerchr4:58051636..58096874hg19UCSC Ensembl
Innerchr4:57746393..57791631hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3845239
hg1945239
hg1845239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5217n100
Supporting Variantsnssv3625306, nssv3625307
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)nsv1008630
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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