A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968494



Internal ID22743429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125606968..134343905hg38UCSC Ensembl
chr6:125928114..134665043hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg388736938
hg198736930
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422957
Samples
Known GenesAKAP7, ARG1, ARHGAP18, C6orf58, CENPW, CTAGE9, CTGF, ECHDC1, ENPP1, ENPP3, EPB41L2, EYA4, HEY2, HINT3, HMGA1P7, KIAA0408, L3MBTL3, LAMA2, LINC00326, LINC01013, LOC643623, MED23, MGC34034, MIR5695, MOXD1, NCOA7, OR2A4, PTPRK, RNF146, RPS12, RSPO3, SAMD3, SGK1, SLC18B1, SLC2A12, SMLR1, SNORA33, SNORD100, SNORD101, SOGA3, STX7, TAAR1, TAAR2, TAAR3, TAAR5, TAAR6, TAAR8, TAAR9, TBPL1, TCF21, THEMIS, TMEM200A, TMEM244, TRMT11, VNN1, VNN2, VNN3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968494
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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