A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6570307



Internal ID20943378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30169322..32154185hg38UCSC Ensembl
chr7:30208938..32193797hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381984864
hg191984860
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18273460
Samples
Known GenesADCYAP1R1, AQP1, CCDC129, CRHR2, DKFZP586I1420, FAM188B, GARS, GGCT, GHRHR, INMT, INMT-FAM188B, LOC100506516, LOC401320, MIR550A1, MIR550B1, NEUROD6, NOD1, PDE1C, PPP1R17, ZNRF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6570307
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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