A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000008



Internal ID18742539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16898463..16949734hg38UCSC Ensembl
Innerchr1:17224958..17276229hg19UCSC Ensembl
Innerchr1:17097545..17148816hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3851272
hg1951272
hg1851272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv118n100
Supporting Variantsnssv3469352, nssv3465650
Samples
Known GenesCROCC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000008
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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