A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033225



Internal ID19122447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55894466..56026847hg38UCSC Ensembl
Innerchr7:55962159..56094540hg19UCSC Ensembl
Innerchr7:55929653..56062034hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38132382
hg19132382
hg18132382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6362n100
Supporting Variantsnssv3661423
Samples
Known GenesGBAS, MRPS17, PSPH, ZNF713
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033225
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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