A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6604272



Internal ID20977343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6001512..6014823hg38UCSC Ensembl
chr7:6041143..6054454hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3813312
hg1913312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18157471
Samples
Known GenesAIMP2, PMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6604272
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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