A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050324



Internal ID18792855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:71872257..71920574hg38UCSC Ensembl
Innerchr9:74487173..74535490hg19UCSC Ensembl
Innerchr9:73676993..73725310hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3848318
hg1948318
hg1848318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3696357
Samples
Known GenesABHD17B, C9orf85
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050324
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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