A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6542421



Internal ID20915680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85951963..92104665hg38UCSC Ensembl
chr1:86417646..92570222hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg386152703
hg196152577
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18251888
Samples
Known GenesBARHL2, BRDT, BTBD8, CCBL2, CDC7, CLCA1, CLCA2, CLCA3P, CLCA4, COL24A1, EPHX4, FLJ27354, GBP1, GBP1P1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GEMIN8P4, GTF2B, HFM1, HS2ST1, LINC01140, LMO4, LOC100505768, LOC729930, LRRC8B, LRRC8C, LRRC8D, MIR7856, ODF2L, PKN2, RBMXL1, SEP15, SH3GLB1, TGFBR3, ZNF326, ZNF644
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6542421
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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