A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025823



Internal ID18768355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76506401..76881583hg38UCSC Ensembl
Innerchr7:76135718..76510900hg19UCSC Ensembl
Innerchr7:75973654..76348836hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38375183
hg19375183
hg18375183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6473n100
Supporting Variantsnssv3656536
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)nsv1025823
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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