A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323200



Internal ID22281649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247548963..247568882hg38UCSC Ensembl
chr1:247712265..247732184hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3819920
hg1919920
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205374
Supporting Variants
SamplesNA19239
Known GenesGCSAML
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323200
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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