A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213741



Internal ID22360591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130079878..130079938hg38UCSC Ensembl
chr7:129719718..129719778hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14338297, nssv14338296, nssv14338295
SamplesNA19239, HG00732, NA19240
Known GenesKLHDC10
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213741
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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