A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887500



Internal ID22662492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15160405..15165038hg38UCSC Ensembl
chr1:15486901..15491534hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384634
hg194634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv26n209
Supporting Variantsnssv17369412
Samples
Known GenesC1orf195, TMEM51
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887500
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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