A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064607



Internal ID18807138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75753231..76415204hg38UCSC Ensembl
Innerchr16:75787129..76449101hg19UCSC Ensembl
Innerchr16:74344630..75006602hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38661974
hg19661973
hg18661973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559628
Samples
Known GenesCNTNAP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064607
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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