A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030726



Internal ID19119945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:20466472..21047100hg38UCSC Ensembl
Innerchr7:20506095..21086719hg19UCSC Ensembl
Innerchr7:20472620..21053244hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38580629
hg19580625
hg18580625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3643268
Samples
Known GenesABCB5, RPL23P8, SP8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030726
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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