A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997330



Internal ID18810180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:147713804..147841832hg38UCSC Ensembl
Innerchr1:147185938..147313966hg19UCSC Ensembl
Innerchr1:145652562..145780590hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38128029
hg19128029
hg18128029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3702117
Samples
Known GenesGJA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997330
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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