A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498641



Internal ID20871854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30863794..30904808hg38UCSC Ensembl
chr17:29190812..29231826hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3841015
hg1941015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195328
Samples
Known GenesATAD5, TEFM
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498641
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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