A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979666



Internal ID22754601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102358172..102550712hg38UCSC Ensembl
chr7:101998617..102191159hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38192541
hg19192543
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445347
Samples
Known GenesALKBH4, LOC100289561, LOC100630923, LRWD1, MIR4467, MIR5090, ORAI2, POLR2J, POLR2J3, PRKRIP1, RASA4B
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979666
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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