A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034826



Internal ID19124047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55894466..56025142hg38UCSC Ensembl
Innerchr7:55962159..56092835hg19UCSC Ensembl
Innerchr7:55929653..56060329hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38130677
hg19130677
hg18130677
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6362n100
Supporting Variantsnssv3661422
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)nsv1034826
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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