A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886693



Internal ID22661682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245774727..247219968hg38UCSC Ensembl
chr1:245938029..247383270hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381445242
hg191445242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358438
Samples
Known GenesAHCTF1, C1orf229, CNST, LOC149134, LOC255654, MIR3916, SCCPDH, SMYD3, TFB2M, ZNF124, ZNF669, ZNF670, ZNF670-ZNF695, ZNF695
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886693
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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