A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15705341



Internal ID21377617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40749548..40749804hg38UCSC Ensembl
chr12:41143350..41143606hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4390234
Supporting Variants
Samples
Known GenesCNTN1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15705341
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.146552


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