A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899612



Internal ID22674743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158350692..158360891hg38UCSC Ensembl
chr2:159207204..159217403hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3810200
hg1910200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1242n209
Supporting Variantsnssv17407825
Samples
Known GenesCCDC148
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899612
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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