A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14335436



Internal ID22310671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:55402587..55402648hg38UCSC Ensembl
chr7:55470280..55470341hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203761
Supporting Variants
SamplesNA19240
Known GenesLANCL2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14335436
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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