A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16998028



Internal ID66226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72698779..73300779hg38UCSC Ensembl
chr7:72163749..72714776hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38602001
hg19551028
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141807
Supporting Variants
Samples
Known GenesGTF2IP1, LOC100093631, LOC100101148, LOC541473, NCF1B, NSUN5P2, PMS2L2, PMS2P5, POM121, SBDSP1, SPDYE7P, SPDYE8P, STAG3L1, STAG3L3, TYW1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16998028
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000955


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