A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008565



Internal ID18751096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39693156..39781312hg38UCSC Ensembl
Innerchr1:40158828..40246984hg19UCSC Ensembl
Innerchr1:39931415..40019571hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3888157
hg1988157
hg1888157
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv152n100
Supporting Variantsnssv3478134
Samples
Known GenesBMP8B, OXCT2, PPIE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008565
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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