A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433067



Internal ID21395069
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 StatusM
Merged Variants
Supporting Variantsnssv15753673, nssv15751901
SamplesNB12, NB11
Known GenesSIPA1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433067
Frequency
Sample Size15
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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