A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14361778



Internal ID22192748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37935138..37935243hg38UCSC Ensembl
chr1:38400810..38400915hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526674
Supporting Variants
SamplesHG00731
Known GenesINPP5B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14361778
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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