A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2804923



Internal ID21250261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10200391..10200545hg38UCSC Ensembl
chr2:10340517..10340671hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv171n137
Supporting Variantsnssv13681151
Samples
Known GenesC2orf48
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2804923
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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