A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027363



Internal ID18769895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:22817000..23271413hg38UCSC Ensembl
Innerchr7:22856619..23311032hg19UCSC Ensembl
Innerchr7:22823144..23277557hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38454414
hg19454414
hg18454414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3752927
Samples
Known GenesFAM126A, GPNMB, KLHL7, KLHL7-AS1, NUPL2, SNORD93, TOMM7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027363
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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