A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278795



Internal ID22199071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148358954..148428255hg38UCSC Ensembl
Outerchr7:148056046..148125347hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3869302
hg1969302
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227576
Supporting Variants
SamplesHG00732
Known GenesCNTNAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278795
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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