A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016316



Internal ID18758851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23221900..23318018hg38UCSC Ensembl
Innerchr7:23261519..23357637hg19UCSC Ensembl
Innerchr7:23228044..23324162hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3896119
hg1996119
hg1896119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3643280
Samples
Known GenesGPNMB, IGF2BP3, MALSU1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016316
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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