A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975022



Internal ID22749957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:34818028..37653165hg38UCSC Ensembl
chr7:34857640..37692768hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382835138
hg192835129
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433768
Samples
Known GenesANLN, AOAH, AOAH-IT1, DPY19L1, DPY19L2P1, EEPD1, ELMO1, ELMO1-AS1, HERPUD2, KIAA0895, LOC100506725, LOC101928618, LOC401324, MIR1200, NPSR1, NPSR1-AS1, SEPT7, TBX20
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975022
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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