A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195912



Internal ID22346015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7650807..7652177hg38UCSC Ensembl
chr1:7710867..7712237hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg381371
hg191371
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309962, nssv14309969, nssv14309966, nssv14309965, nssv14309967, nssv14309963, nssv14309968, nssv14309964, nssv14309970
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCAMTA1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195912
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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