A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019400



Internal ID19108618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55642134..56026847hg38UCSC Ensembl
Innerchr7:55709827..56094540hg19UCSC Ensembl
Innerchr7:55677321..56062034hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38384714
hg19384714
hg18384714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3661421
Samples
Known GenesFKBP9L, GBAS, MRPS17, PSPH, SEPT14, ZNF713
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019400
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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