A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429547



Internal ID208391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27306072..28001379hg38UCSC Ensembl
chr1:27632563..28327890hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38695308
hg19695328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900441
Samples
Known GenesAHDC1, CD164L2, EYA3, FAM76A, FCN3, FGR, GPR3, IFI6, LOC644961, MAP3K6, PPP1R8, RPA2, SCARNA1, SMPDL3B, STX12, SYTL1, THEMIS2, TMEM222, WASF2, WDTC1, XKR8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429547
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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