A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498297



Internal ID20871506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7331549..7378367hg38UCSC Ensembl
chr17:7234868..7281686hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3846819
hg1946819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192821
Samples
Known GenesACAP1, KCTD11, TMEM95
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498297
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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