A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16998063



Internal ID66250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72942389..73297889hg38UCSC Ensembl
chr7:72412928..72711889hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38355501
hg19298962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142561
Supporting Variants
Samples
Known GenesGTF2IP1, LOC100093631, LOC100101148, LOC541473, NCF1B, NSUN5P2, PMS2L2, PMS2P5, POM121, SPDYE8P, STAG3L1, STAG3L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16998063
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.026231


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