A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007244



Internal ID18749775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98447290..98520009hg38UCSC Ensembl
Innerchr2:99063753..99136472hg19UCSC Ensembl
Innerchr2:98430185..98502904hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3872720
hg1972720
hg1872720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580080
Samples
Known GenesINPP4A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007244
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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