A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896105



Internal ID22671194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7548083..10446730hg38UCSC Ensembl
chr6:7548316..10446963hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg382898648
hg192898648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435812
Samples
Known GenesBLOC1S5, BLOC1S5-TXNDC5, BMP6, DSP, EEF1E1, EEF1E1-BLOC1S5, HULC, LINC00518, LOC100506207, MIR5689, PIP5K1P1, SCARNA27, SLC35B3, SNRNP48, TFAP2A, TFAP2A-AS1, TXNDC5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896105
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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