A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030956



Internal ID18773488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:138478424..138894773hg38UCSC Ensembl
Innerchr7:138163169..138579519hg19UCSC Ensembl
Innerchr7:137813709..138230059hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38416350
hg19416351
hg18416351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3664242
Samples
Known GenesATP6V0A4, KIAA1549, SVOPL, TMEM213, TRIM24
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030956
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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