A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027028



Internal ID18769560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76550385..76936433hg38UCSC Ensembl
Innerchr7:76179702..76565750hg19UCSC Ensembl
Innerchr7:76017638..76403686hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38386049
hg19386049
hg18386049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6473n100
Supporting Variantsnssv3656630, nssv3656633, nssv3656626, nssv3656629, nssv3656631, nssv3656627, nssv3656624, nssv3656623, nssv3656628, nssv3656632, nssv3656625
Samples
Known GenesLOC100133091, POMZP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027028
Frequency
Sample Size29084
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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