A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547337



Internal ID20920540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1425219..1726104hg38UCSC Ensembl
chr1:1360599..1657543hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38300886
hg19296945
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18247017
Samples
Known GenesATAD3A, ATAD3B, ATAD3C, C1orf233, CDK11A, CDK11B, MIB2, MMP23A, MMP23B, SLC35E2, SLC35E2B, SSU72, TMEM240, TMEM88B, VWA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547337
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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