A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6617509



Internal ID20990580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50496899..50713944hg38UCSC Ensembl
chr7:50564597..50781641hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38217046
hg19217045
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18235115
Samples
Known GenesDDC, GRB10, LOC100129427
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6617509
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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