A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17445347



Internal ID22503217
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 StatusS
Merged Variantsnsv5979666
Supporting Variants
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)nssv17445347
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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