A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197948



Internal ID22347754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27380056..27380221hg38UCSC Ensembl
chr7:27419675..27419840hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14333865, nssv14333864, nssv14333863
SamplesHG00512, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197948
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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