A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15753673



Internal ID21391127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232477890..232478635hg38UCSC Ensembl
chr1:232613636..232614381hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38746
hg19746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4433067
Supporting Variants
SamplesNB12
Known GenesSIPA1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15753673
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer