A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142723



Internal ID341924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75253600..75361000hg38UCSC Ensembl
chr7:74669367..74990270hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38107401
hg19320904
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001077
Samples
Known GenesGATSL1, GATSL2, GTF2IP1, PMS2P5, SPDYE8P, STAG3L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142723
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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