A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255596



Internal ID22117644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:176726013..176761054hg38UCSC Ensembl
Outerchr1:176695149..176730190hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3835042
hg1935042
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203927
Supporting Variants
SamplesHG00512
Known GenesPAPPA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255596
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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