A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18225516



Internal ID20792556
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 StatusS
Merged Variantsnsv6606539
Supporting Variants
Samples
Known GenesAUTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18225516
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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