A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022058



Internal ID18764592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146321181..146337763hg38UCSC Ensembl
Innerchr7:146018273..146034855hg19UCSC Ensembl
Innerchr7:145649206..145665788hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3816583
hg1916583
hg1816583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674193, nssv3674194, nssv3674192
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022058
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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