A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458671



Internal ID21116224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6121701..6211200hg38UCSC Ensembl
chr12:6230867..6320366hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3889500
hg1989500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186365
Samples
Known GenesCD9, VWF
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458671
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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