A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365764



Internal ID22202551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97482678..97482678hg38UCSC Ensembl
chr12:97876456..97876456hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560251
Supporting Variants
SamplesHG00732
Known GenesRMST
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365764
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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