A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18228502



Internal ID20795542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75354101..76443000hg38UCSC Ensembl
chr7:74983342..76072317hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381088900
hg191088976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6607198
Supporting Variants
Samples
Known GenesCCL24, CCL26, HIP1, HSPB1, MDH2, MIR4651, NSUN5P1, PMS2P3, PMS2P5, POM121C, POR, RHBDD2, SNORA14A, SPDYE5, SRCRB4D, SRRM3, STAG3L1, STYXL1, TMEM120A, TRIM73, TRIM74, YWHAG, ZP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18228502
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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