A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530329



Internal ID20903690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75256379..75325276hg38UCSC Ensembl
chr17:73252460..73321357hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3868898
hg1968898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181005
Samples
Known GenesGGA3, GRB2, LOC100287042, MIF4GD, MRPS7, SLC25A19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530329
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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