A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001380



Internal ID19090597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57185470..57233563hg38UCSC Ensembl
Innerchr4:58051636..58099729hg19UCSC Ensembl
Innerchr4:57746393..57794486hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3848094
hg1948094
hg1848094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5217n100
Supporting Variantsnssv3739455, nssv3625311, nssv3625312, nssv3739456, nssv3625313
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)nsv1001380
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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