A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141807



Internal ID341005
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 StatusM
Merged Variants
Supporting Variantsnssv16998028
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)nsv6141807
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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