A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034943



Internal ID18777475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76506401..76977978hg38UCSC Ensembl
Innerchr7:76135718..76607295hg19UCSC Ensembl
Innerchr7:75973654..76445231hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38471578
hg19471578
hg18471578
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6479n100
Supporting Variantsnssv3755340, nssv3656547, nssv3755342, nssv3656545, nssv3656548, nssv3755339, nssv3656549, nssv3755343, nssv3755344, nssv3656546, nssv3755341, nssv3656550
Samples
Known GenesLOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034943
Frequency
Sample Size29084
Observed Gain8
Observed Loss4
Observed Complex0
Frequencyn/a


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