A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008261



Internal ID19097480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:16603592..16715555hg38UCSC Ensembl
Innerchr2:16784860..16896822hg19UCSC Ensembl
Innerchr2:16648341..16760303hg18UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38111964
hg19111963
hg18111963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577114
Samples
Known GenesFAM49A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008261
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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