A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14311116



Internal ID22299694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7642949..7643210hg38UCSC Ensembl
chr1:7703009..7703270hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526935
Supporting Variants
SamplesNA19240
Known GenesCAMTA1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14311116
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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