A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026834



Internal ID18769365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144804690..146260365hg38UCSC Ensembl
Innerchr7:144501783..145957457hg19UCSC Ensembl
Innerchr7:144132716..145588390hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381455676
hg191455675
hg181455675
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674189, nssv3757712
Samples
Known GenesCNTNAP2, TPK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026834
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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