A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580713



Internal ID18878994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:124367406..124592765hg38UCSC Ensembl
Innerchr2:125124983..125350342hg19UCSC Ensembl
Innerchr2:124841453..125066812hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38225360
hg19225360
hg18225360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014610
Supporting Variants
Samples
Known GenesCNTNAP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580713
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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