A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6600803



Internal ID20973874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75472281..75520713hg38UCSC Ensembl
chr7:75101547..75150042hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3848433
hg1948496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18159581
Samples
Known GenesPMS2P3, POM121C, SPDYE5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6600803
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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