A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6606539



Internal ID20979610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70568501..70767000hg38UCSC Ensembl
chr7:70033487..70231986hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38198500
hg19198500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18225516
Samples
Known GenesAUTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6606539
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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