A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345014



Internal ID21002567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73631071..73691078hg38UCSC Ensembl
chr2:73858198..73918205hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3860008
hg1960008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3928n223
Supporting Variantsnssv18089738
Samples
Known GenesALMS1P, NAT8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345014
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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