A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17370699



Internal ID22596368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30622397..30771323hg38UCSC Ensembl
chr17:28949415..29098341hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38148927
hg19148927
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5976467
Supporting Variants
Samples
Known GenesLRRC37BP1, SH3GL1P2, SUZ12P1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17370699
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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